The following families graciously participated in a survey in 1996 so that other families may learn about children with Emanuel Syndrome. Thank you to all who participated.

Family#1: USA. Male, born 10/27/90, to a 28 year old mother, and 32 year old father, child passed away 02/06/92. Child was delivered by cesarean due to breech position

Mother is reported to carry the balanced t(11;22), developed in her 'de novo'. Neither maternal grandparent carries the t(11;22). Three siblings of affected child, girl, carrier of balanced, girl unaffected, boy carrier of balanced. Mother experienced 4 miscarriages.

Birth weight of child: 6 lbs 9oz, length, 18'. Child was found to have a cleft palate, micrognathia, preauricular sinus, excess neck skin, ear pits, retroverted ears, hypotonia, suffered from frequent constipation and recurrent ear infections. He had no teeth when he died at 16 months of age. The child also was born with an ASD and VSD and mild pulmonary stenosis. The VSD corrected itself, the ASD would have required surgery had the child lived. Tubes were placed in the child's ears at 4 months due to fluid/ear infections.

The child apparently understood a lot of language, words relating to eating, going out, getting dressed. At 4-5 months he said 'mama' and at 1 year said 'dada'.

The child had the ability to roll from front to back, and back to front. He was unable to crawl, but could maintain an independent sitting position, a skill he learned at 13 months. He was unable to go from laying to sitting on his own, or walk. The child used a bottle to feed with, and was not able to feed himself, or chew. The boy passed away following his cleft palate surgery, having developed pneumonia.

The boy was a fun happy delightful little boy, who slept from 8 pm. to 7 am. from age 4 months and beyond, and napped well during the day. He loved Sesame Street and going for walks in his stroller, rides in a back pack and bicycle with his dad. He was interested in lots of toys, people, animals and especially his kitten and puppy dog. He brought great joy to his parents, teachers and all who knew him.

Family#2: USA: girl, born 12/15/73, to 33 year old mother, and 31 year old father. Mother experienced 1 miscarriage. The mother is the carrier of the balanced translocation. Both the maternal grandmother and maternal great grandmother carry the balanced 11;22 translocation.

Weight at birth was 6 lbs, 2 oz, and length was 22". Current age of 25, weight is 85 pounds and height is 4'11.

Child diagnosed with ear pits, low set ears, hypotonia, microcephaly, delayed appearance of teeth, scoliosis and requires medication for seizures. A VSD was present with no visible symptoms. As an infant and toddler, suffered many ear infections, resulting in moderate loss of hearing. Tubes were inserted. Puberty did not take place. Recent ultrasound's determined the young woman has no uterus or cervix, only one small normal ovary.

The young woman comprehends language, using gestures, pictures and body language. She is nonverbal. She makes limited use of sign language, for 'go', 'baby', 'eat', 'drink'. She is able to some degree to make her need to use the toilet known. She is toilet regulated, and requires incontinence supplies for overnight only.

The girl has the ability to roll front to back, and never really crawled. She maintains independent sitting, and walks unaided. She can finger and spoon feed herself, and drink from a cup on her own.

She has an outgoing personality, loves people and being out. Obtains a great deal of pleasure from listening to all kinds of music. She spends a great deal of time playing an electronic piano.

Family#3: ENGLAND: Boy, born 16/09/93 after an uneventful pregnancy, to a 30 year old mother who carries the balanced translocation, and 29 year old father. The mother experienced periods of infertility, and suffered two miscarriages. They have one other child, a girl, who is also a carrier of the balanced translocation. The mother also has a brother who carries the translocation, and an 11 year old niece is also affected with the unbalanced translocation.

Weight at birth was 3.5 kg, length was 53 cm. At the child's current age of 5, weighs 18 kg, and is 104 cm tall.

The child was diagnosed with imperforate anus, ear tags, hypotonia, missing kidney, torticollis. He also has pulmonary stenosis and has echocardiograms every 5 years to monitor. The boy requires glasses, suffers recurrent ear infections and constipation, and had delayed appearance of teeth. Some hearing loss is reported due to infections, and he had three sets of ear tubes. He cannot hear very low sounds, but does not require hearing aids.

The boy does understand some language, but is unable to use any form of signing or use of words. He is not toilet trained. The child does not roll in any way, but can lie on his front and get back to sitting. The child does not crawl but started to bottom shuffle at 20 months old. He was able to maintain an independent sitting position at 10 months, and can go from laying to sitting on his own, which he was able to do at 4 years of age. He can walk with assistance.

The boy is able to finger feed and spoon feed himself, and drink from a cup on his own. He is a passive child with a lovely temper, gorgeous looking, and loves music of any kind, loves watching videos, loves movement and cuddles. he loves banging toys and toys that move.

Family#4: ENGLAND: Boy, born 08/31/97, to a 30 year old mom, and a 30 year old dad. Mother carries the t(11;22) and experienced one miscarriage, but no problems during her pregnancy. Child's weight at birth was 6 lbs, 8 oz, currently at age 19 months, the child weighs 24 lbs, and is 82 cm tall.

The boy was diagnosed with ear pits, broad nose, hypotonia, sacral dimple, micropenis, seizures requiring medication. He experiences frequent respiratory and ear infections. Ear tubes were placed at 16 months, but were blocked within several weeks. He now has hearing aids, and at present it is undetermined whether the hearing loss is permanent or due to fluid. A successful PDA Ligation was performed at 3 months, operation due to heart failure, brought on by a serious chest infection. The child at present has limited communication skills, but understand simple things, such as indicating if he wants juice, if presented to him.

The boy wore an Edinburgh splint for the 1st 6 weeks of life to prevent hip dislocation and a small boot to cure right foot talipes. He had severe colic and constipation in his early weeks.\par The child is able to roll back to front, front to back, and learned to crawl at 19 months. He learned to sit independently at 16 months. He is able to drink from a cup with assistance. He is always happy and sociable, cries usually only when in pain, and babbles constantly. He especially loves being thrown around in the air, being sung to, and bathtime.

Family#5, USA: Boy, born 12/25/98 and passed away 05/21/99. At birth, mom and dad were both age 29. Mother experienced one miscarriage, and during pregnancy had spotting at 3-4 months and premature labour. The mother carries the t(11;22). Other family members are to be tested in the future.

Child's birth weight was 4 lbs, 4 oz, length was 18 1/2 '. At age 3 months, he weighed 9 lbs, 7 oz, and was 20' long. He was born with Pierre Robin syndrome and had cleft palate, micrognathia, breathing and suck/swallow difficulties. He also had imperforate anus, ear pits, low set ears, abnormally functioning kidney due to bladder/kidney reflux, hydrocephaly, undescended testes and gastroesophageal reflux. Heart defects included a PDA, PFO and arterial stenosis. At age 3 months he responded to voices and music. He required tube feeding. Cause of death was ruled as cardiopulmonary arrest.

Family#6, CANADA: Girl, born 2/6/95 to a 34 year old mom, and a 35 year old dad. Mother experienced 1 miscarriage prior. Mother carries the t(11;22), as does one daughter age 17. A son does not carry it.

Child's birthweight was 2 lbs, 10 oz, and length 19". At current age of 4 weighs 35 lbs, and is 41" tall. The girl was diagnosed with suck/swallow difficulties, breathing difficulties, imperforate anus, ear tags, low set ears, malformed outer ear, hypotonia, and ASD, additional pair of ribs, sacral dimple, gastroesophageal reflux, seizures and hip dislocation. The girl also experiences frequent ear and respiratory infections, and had delayed appearance of teeth. She has had 4 sets of ear tubes due to fluid and hearing loss. The girl does not appear to understand any language. She can roll front to back, and at age 3 was able to sit independently. He requires tube feeding, and aspirates. Music stimulation is both positive and fun for her, she recently learned to hug which is thrilling for the parents and is always smiling.

Family#7, USA: Girl, born 1/2/86 to a 36 year old mom, and 35 year old dad. Mother carries the t(11;22) The mother never experienced any miscarriages but reported periods of infertility.

Child's birthweight was 7 lbs, length was 21". At current age of 13, is 5' tall, and weighs 95 lbs. At birth was diagnosed with high palate, eat pits and tags, broad nose, hypotonia, abnormally functioning kidney, sacral dimple, strabismus for which she currently wears glasses) excess neck skin and tracheal malacia.. She suffered recurrent ear infections, frequent constipation and was sensory defensive. Hearing is affected mildly by fluid, and she has had ear tubes. Puberty was on time. She understands routine phrases, requests, but has no speech and does not use any sign language. The girl learned to crawl at approximately 2 years, and is able to walk without assistance for short distances. She is also able to finger feed herself, and drink from a cup on her own. She uses a fork but won't scoop foods yet. She loves music and has a great sense of rhthym. She is generally fearful of new activities. She enjoys motion activities such as swinging, riding a garden tractor or motorcycle, and does not like furry toys or live animals.

Family#8, USA: Girl, born to a 42 year old mom, and a 45 year old dad. The father carries the t(11;22) The mother did not experience any miscarriages. One boy, of three other siblings, carries the t(11;22). The father mother and his two maternal aunts also carry the translocation. The father's one sister is also a carrier.

Child's date of birth is 6/5/98, weight at birth was 6 lbs, 10 oz, length 21". At current age of 10 months, weighs 14 lbs, 13 oz, and is 25" long. At birth was diagnosed with micrognathia, suck/swallow difficulties, breathing problems, failure to thrive, ear pits and tags, malformed outer ear, broad nose, hypotonia, sacral dimple, legally blind, long fingers, excess neck skin, hip dysplasia/dislocation, sensory defensiveness. The child has no heart defects. She is deaf in her left ear and has delayed hearing response in her right ear. She is a loving and sweet little girl, who loves to cuddle and be sung to. She loves to play in either a sitting or laying position.

Family #9, ENGLAND: Girl, born to a 34 year old mom, and a 37 year old dad. The mother is the carrier of the t(11;22) and experienced 7 miscarriages. There are 2 other daughters, both carry the t(11;22) The maternal grandfather also carries the t(11;22) as did one of his 3 sons.

Girl's date of birth is 27/5/86, weight at birth was 5 lbs, 8 oz, at current age of 13 years, weighs 84 pounds and is 5' tall. The girl has been diagnosed with high palate, micrognathia, failure to thrive, ear tags and a malformed outer ear, broad nose, hypotonia, missing kidney, infrequent seizures, long fingers. The girl also had enamel defects and delayed appearance of teeth, scoliosis, frequent constipation, ear and respiratory infections. She also had an ASD & VSD which required surgery at age 17 months At age 5 months required pulmonary artery banding. Hearing aids were recommended but untolerated. Puberty was on time. Comprehension of language is basic, understands certain phrases. She is unable to communicate a need to use the toilet and requires requires incontinence supplies. She was able to sit independently at age 6, as well as move from laying to sitting position. She is able to walk assisted and drink from a cup with assistance. The girl was tube fed as a baby, but after major heart surgery really seemed to take off feeding wise. She loves meal times and becomes very upset if they do not appear at regular times. She has learned to smile and laugh over the years but these can be rare at times. She still does not drink enough liquids and this can be a problem. Her immune system seems to have developed over the years. She shows a huge range of emotions from deep sorrow to unbelievable excitement. We know when she is happy or when she is upset and it is really great when after a great deal of effort you finally get the smile or laughter you were waiting for!

Family #10, USA: Twin Girls, born to a 40 year parents. Mother is the carrier of the t(11;22) and experienced 1 miscarriage. The mother has three brothers, two of which are also carriers. The mother has 4 other children, one son and one daughter are also carriers. The maternal grandmother is also a carrier, and so is one of her sisters. One grandson, and a one nephew's daughter are also carriers.

Date of birth for the twins was 1/1/75. Weights were 4 lbs, 11 oz, and 4 lbs, 13 oz. Current age of 24 years, weigh about 85 lbs, and are about 4'6". The girls both had cleft palates, micrognathia, ear pits, broad noses, hypotonia. The girls both wear glasses. One girl has long fingers. Both girls have slight heart murmurs, and have had ear tubes many times. One girl has had mastoiditis in both ears and surgery in one ear to replace ear drums and also some plastic surgery to straighten her ear canal, the other girl also had mastoiditis and had surgery for a new ear drum. Both girls are assumed to have some hearing loss. Puberty was on time for both girls.

Both girls understand what is being said. One of the girls has had some success using facilitated communication with a letter board. The girls both can communicate the need to use the toilet, and are toilet regulated. They are able to walk with assistance. They do not feed themselves, but can drink from a cup with assistance. The one girl enjoys looking at photo albums, and being read to. She also loves t.v. shows with cooking and crafts. She is social and loves shopping and visiting family. She is very sensitive to others, and shows concern when she sees others in a wheelchair or worries when others are goofing off and might get hurt. The other girl likes to stand leaning on the kitchen counter to watch. She enjoys movies, plays. Does not like to make eye contact and will look away or stop her activity of she sees you watching her. She does not like to go shopping, or stopping for anything when driving or taking a walk.

Family #11, NORWAY: Boy, born to a 28 year old mom and 37 year old dad. The mother is a carrier of the t(11;22). No problems were experienced during the pregnancy.

The boy's birth date is 2/10/96, weight at birth was 3815 gr, 53 cm. Current age is 2 years, 7 months, and weight is 11 kg, and 85 cm. The child was diagnosed at birth with imperforate anus, ear pits and tags, malformed outer ear, hypotonia. The boy experienced recurrent ear infections which led to 6 sets of ear tubes. He understands most of what is said to him, and understands some signs as well. He is able to roll front to back and back to front and was able to sit independently at age 1 1/2, and able to go from laying down to sitting position at age 1 3/4. He is able to walk with assistance, and finger feed himself. He can drink from a cup with assistance also.

Family #12, USA: Boy, birth date 9/4/93 born to a 28 year old mother, and 30 year old father. The mother experienced 1 miscarriage. The father is the carrier of the t(11;22). The Paternal grandmother, paternal brother, paternal uncle and niece, as well as Paternal great-grandmother, and Paternal great-great-grandfather also carry the t(11;22).

Child's weight at birth was 6 lbs, 9 oz, and length, 20 1/2 ". At current age of 6, weighs 40 lbs, and is 40" tall. At birth the boy was diagnosed with suck/swallow difficulties, breathing difficulties, ear pits, hypotonia, missing kidney, microcephaly, bilateral inguinal hernias, aspiration. The boy had delayed appearance of teeth, has seizures requiring medication, loose bowels, frequent ear and respiratory infections. Has mild hearing lose in upper pitches, and has had sets of ear tubes. He has a good understanding of what is said to him and understands some signs language. He is toilet regulated, but still requires diapers. He is able to crawl, a skill he achieved at 21 months, and sat independently at 18 months, and go from laying to sitting at age 20 months. He can walk unassisted. He is tube fed, due to aspiration. He is a very happy boy who can do puzzles, and dribble a basketball. He does have poor balance thought, He loves to play tag with other children and is a joy to all.

Family #13, USA: Boy, date of birth 7/20/87, born to a 22 year old mom, and 32 year old dad. The mom carries the t(11;22). The mother experienced toxaemia during pregnancy. Testing showed no other carriers in the family, including the mother's parents.

The boy's birth weight was 6 lbs, 9 oz, and length 21 ". At age 11 years, weight is 40 lbs, and is 45" tall. At birth, the boy was diagnosed with cleft palate, micrognathia, suck/swallow difficulties, breathing difficulties, imperforate anus, ear pits, low set ears, hypotonia, microcephaly, long fingers, micropenis, microcephaly, undescended testes, gastroesophageal reflux, and a small VSD not requiring surgery.

The boy also had delayed appearance of teeth, and wears a hearing aid in his right ear. He had a severe infection in the left ear which required surgery and he lost all hearing in that ear. He seems to understand most of what is said to him, and understands simple commands, like sit up straight or stop grinding your teeth. His problem is in responding. At one time was saying the words 'mama', 'no' and 'Andy' (his brother) but now just jabbers. He requires diapers still. He can sit independently, learned at age 4, also learned to go from laying to sitting at the same time. He is unable to feed himself, but can drink from a cup with assistance. He cannot chew. His is the sweetest happiest child in the world, is very loving and gives terrific big hugs. He has a wonderful smile that lights up a room. He is very determined and works hard in physical therapy. He enjoys meeting new people, and loves animals. He loves music and will clap his hands in time to the music. he loves watching other children and gets really excited when he sees them playing.

Family#14, USA: Girl, born 20/10/92, to a 34 year old mom and a 38 year old dad. The other is the carrier of the t(11;22) but no other family members are, including her parents. She experienced 3 miscarriages.

Child's weight at birth was 6lbs, 6 oz, length 19". Current age of 6 years, weighs 40 lbs, and is 44" tall. At birth the girl was diagnosed with Pierre Robin Syndrome, cleft palate, micrognathia, suck/swallow difficulties, low set ears, missing outer ear there is an ear drum but no opening, hypotonia, strabismus, long fingers, ASD & Pulmonary stenosis & hip dislocation. The girl is legally blind, and wears glasses, has seizures requiring medication, scoliosis, frequent constipation, and suffers recurrent ear infections.

The girl is able to comprehend language, and uses the signs for eat, no, drink, more, finished and good. She requires diapers. She can roll from front to back, back to front, and learned to maintain an independent sitting position at 18 months. She can also go from laying to sitting, which she learned at the same age. She is able to walk with assistance. She is unable to feed herself, but loves to drink the box drinks with straws, the family works on hand over hand to hold the drink, and also do hand over hand for finger and spoon feeding. She loves Barney and will push the tape into the VCR to start it playing.

Family #15, USA: Girl, born 10/20/96, to 26 year old mom, and 29 year old dad. At present time, the mother does not prove to be a carrier, though the father was still to be ruled out.

Child's weight at birth was 6 lbs, 6 oz, and 20". At current age of 2 1/2, weighs 23 lbs. At birth she was diagnosed with failure to thrive, broad nose, long philtrum, sacral dimple, long fingers, and required treatment for a low immune system. At 2 1/2, is just beginning to pull up to standing position. She learned to crawl at 26 months. The child is able to understand language, and does the sign for more, and uses the words num (for yum) and is beginning to say 'hi', 'go' and 'Yeah!' She can roll front to back, and back to front, learned at age 20 months. She learned to sit independently at age 10 months, and went from laying to sitting at age 2. She can walk with assistance. She is able to finger feed and spoon feed herself, and can drink on her own from a sip cup. The little girl loves Sesame Street and Teletubbies, her laugher and giggling is like no other! She loves dogs and kids, especially her one year old brother.

Family#16, ENGLAND: Girl, born 8/5/89, to a 27 year old mom and a 41 year old dad. The mother carries the t(11;22) The maternal Grandfather also carries the translocation.

The child's weight at birth was 6 lbs, 19 inches. At current age of 10, weighs 56 lbs, and is 4'3". At birth the girl was diagnosed with high palate, suck/swallow difficulties, ear pits and tags, broad nose, long philtrum, & long fingers. The girl had delayed appearance of teeth, scoliosis, sensory defensiveness and had frequent constipation and ear infections. A squint was corrected at age 2, her central and lateral incisors in lower jaw appeared behind her baby teeth. At 14 months she was diagnosed with a 70 decibel loss in both ears, she wore hearing aids until age 7, T-Tubes were fitted at age 8 years, and she no longer wears hearing aides. Her hearing recorded at 40-50 decibels at 9 years. She has less frequent ear infections now.

The girl understands situational speech, very basic. Can choose between 2/3 choices. When asked if she wants a bike ride, will go to the bike, and if asked if wanting to go for a walk, will go and get her shoes. She uses some sign language as well, for 'drink', 'biscuit', 'bed', 'teeth cleaned'. She is also able to use some basic words, she will hum tunes of songs, and say 'come on' 'how are you', 'here I am', 'good girl', 'mum', 'hold on'. She communicates mostly through facial expressions, arm and hand pointing.

The girl was able to crawl at age 4 years, and learned independent sitting at 8 months of age. She was able to go from a laying to sitting position at age 2 1/2. She could walk with assistance at 12 months, and walk unaided at 3 years. She is able to finger feed herself, but is orally defensive. She won't hold a spoon or cup, although able to. Generally doesn't manipulate objects with hands. Is spoon fed all drinks, and will only finger feed bite size food.

Family #17, ENGLAND: Girl, born 12/06/88, to a 26 year old mother, and a 28 year old father. The mother had 4 miscarriages. The mother is the carrier of the t(11;22), as is the maternal grandmother, 3 maternal uncles and 2 aunts, and about 25 related cousins.

Child's weight at birth was 6 lbs, 3 oz, and length was 43 cm. Current age of 111, weighs 42 lbs, and is 4' tall. At birth the child was diagnosed with Pierre Robin sequence, high palate, micrognathia, suck.swallow difficulties, failure to thrive, ear pits, broad nose, long philtrum, hypotonia, strabismus, long fingers, excess neck skin, hypoplastic genitalia, gastroesophageal reflux, hip dislocation and dysplasia, anal atresia, and sensory defensiveness. Teeth were delayed. The girl also has scoliosis, and seizures which require medication. She also suffers frequent chest, ear and urinary infections. Her anus had to be moved back from her vagina, because the anus was curved and aimed at the vagina. Lots of port wine birthmarks, and has a funny high hair line at the back. She has abnormal toe nails, Raynaud's Syndrome, and compensated hypothyroidism that began at age 10. The girl also has some hearing loss from fluid and perforated ear drums. Puberty has begun already at age 11.

The girl understands most of what is being said, and understands several signs. She is incontinent. She learned to sit independently at age 2, and go from laying to sitting at age 4. She was able to walk with assistance at age 3, but still does not walk unaided. She is able to drink from a sip cup on her own. She loves books, and will sit for hours turning pages of magazines, she love music and the weather forecast, horse riding, music therapy, sensory room and car rides. She is able to operate switch toys at school!

Family #18, CANADA: Girl, born 3/21/95, to a 25 year old mom and a 29 year old dad. Mother has 4 miscarriages prior. Problems during pregnancy were high blood pressure and lack of fetal movement, spotting at 3 months. The mother carries the t(11;22) as does the maternal grandmother. Great grandparents were not tested. Child's uncle tested, not a carrier, as was child's great aunt, who was not a carrier.

Child's weight at birth was 6 ' 1 oz, and length 19". Current age of 4 years, weight is 30 lbs, and length is 3 feet. At birth the child was diagnosed with Pierre Robin Syndrome, cleft palate, micrognathia, suck/swallow difficulties, breathing difficulties, low set ears, broad nose, long philtrum, hypotonia, sacral dimple, strabismus, epicanthal folds, excess neck skin, hypoplastic genitalia, hip dysplasia and dislocation, abnormal toe nails, sensory defensiveness, an ASD and PDA which are being monitored still, but not causing any problems. The child also has enamel defects, and frequent ear and respiratory infections. She also has mild to moderate hearing loss due to fluid accumulation and perforated ear drums.

The girl is able to understand a lot of language, and signs. She indicates wants and comprehension through body language and pointing, and some sign language. She uses the signs for food, hello, music, all done, and some signs for songs, and is able to point out a few body parts when asked. She requires diapering. She is able to roll from front to back and back to front though refuses to, she was able to sit independently at age 2 1/2. She walked assisted at age 3. She is not able to feed herself, but points to her juice or will pick up her spoon and hand it to you to feed her. She is able to drink from a cup with assistance. She is able to turn pages of books on her own, and loves music passionately. She can clap in time to music, and loves dolls, and will hug and kiss them. She also loves watching children's programming, but not cartoons.

Family #19, CANADA: Boy, born 3/18/93, to a 30 year old mom, and 32 year old dad. Mother had 5 miscarriages, and carries the t(11;22).

Child's weight at birth was 6 lbs, 7 oz, length was 19 ". At current age of 6 years, weight is 45 lbs, and height is 40 inches.

The boy was diagnosed with cleft palate, suck/swallow difficulties, ear pits, diaphragmatic hernia, morgagnia hernia, hypotonia, strabismus, legally blind, micropenis, gastroesophageal reflux, undescended testes, compromised immune system requiring treatment, infrequent seizures, frequent constipation, ear infections and respiratory infections, sensory defensiveness, complete deafness due to malformed hammer and anvil bones.

The boy understands about 20 signs receptively and uses about 5 expressively. He requires diapers. He can roll front to back/back to front, and was able to go from laying to sitting at age 4 years, and sit independently at age 3 months. He learned to walk with assistance at age 4. He can fingerfeed himself and drink on his own from a juice box with straw. He doesn't like textured foods, but will put any toy in his mouth, links to bang his feet on the wall in the middle of the night, loves baths, and has a water table he likes to play in, and he loves to swing.

Family #20, USA: Boy, born 11/12/94 to a 29 year old mom and a 34 year old dad. Mother has 2 miscarriages, and is the carrier of the t(11;22) The boy was diagnosed prior to birth with Intrauterine growth retardation and breech, and delivered at 37 weeks by caesarean. No other family members have been tested.

Child's weight at birth 5 lbs, 2 oz, length 19". At current age of 4 years, is 31 lbs, and 41" tall. The child has been diagnosed with cleft palate, micrognathia, ear pits, low set ears, hypotonia, sacral dimple, strabismus, delayed teeth which are very crowded, loose bowels, recurrent ear infections and sensory defensiveness which has been outgrown. The boy has had one set of ear tubes, has been diagnosed with moderate loss in the right ear and good hearing in the left. He understands several signs and indicates through his behaviour that he understands a great deal of spoken language. He responds best to a combination of verbal and visual cues. He can do about 4-5 signs. He requires diapers. He can roll front to back/back to front, and learned to creep at 1 year, and 4 point crawl at age 4. He could sit independently at age 1, and go from laying to sitting at age 1 1/2. She walked with assistance at age 2. He can finger and spoon feed himself, and can drink from a cup on his own as well! He is very attracted to circular objects like lampshades and steering wheels and is fascinated by things that spin. He loves toy cars, and will line them up in a toy garage. He loves to play in wastebaskets and toilets, which has set back potty training efforts. He loves to watch t.v. and can operate the vcr by pushing the tape in the slot. He is very expressing and loving, and loves being around other children and has begun to participate in interactive play. While his intellectual development is significantly delayed, he has been consistently achieving conventional milestones at his own pace. He is able to participate in just about any activity and shares his father's interest in motorsports!

Family #21, USA: Boy, born 10/11/96 who passed away 03/16/97 to a 30 year old mom and a 35 year old dad. It is unknown as of yet who carries the 11;22 translocation. The mother suffered two miscarriages.

Child's weight at birth was 6 lbs, 4 oz, length was 18 inches. Child had been diagnosed with a cleft palate, imperforate anus, low set ears, hypotonia, non-functioning kidney, microcephaly, sacral dimple, micropenis, undecended testes, gastroesophageal reflux. He also had a small ASD and VSD which did not cause him any problems. He was tube fed. Was also diagnosed with hearing loss but would follow voices, settle down with music, etc.

Family #22, USA : A girl, born 11/23/88, to a 39 year old mother and a 47 year old father. The Mother is the carrier of the t(11;22). The mom experienced one miscarriage, and during her pregnancy experienced bleeding and fibroid tumors. No other family members have been tested to see who else may carry the t(11;22)

Child's weight at birth was 6 lbs, 2 oz. At current age of 10, weighs 50 lbs, and is 49'' tall. Child was diagnosed with a cleft palate, suck/swallow difficulties, ear pits, low set ears, hypertonia, sensory defensiveness, odd shaped kidney. The girl also experienced recurrent ear infections, urinary tract infections and has seizures which require medication. There are no heart defects. The girl has 40% & 50% hearing loss, however will not tolerate a hearing aid. She has had six sets of ear tubes.

The girl is able to understand simple commands but is unable to use any sign language or verbal words. She is unable to communicate the need to go to the toilet, and requires diapering, but is on somewhat of a schedule for toilet regulation. The girl learned to crawl at age 2, and can walk on her own. She is able to finger feed alone and spoon feed (with assistance) and can drink from a sip cup unaided.

The girl loves music, videos, loves to dance, loves attention and enjoys going to church, eating out and riding.

Family#23, CANADA : A boy, born 26/09/90, to a 33 year old mother, and 39 year old father. The mother is the carrier of the t(11;22). The mom experienced 3 miscarriages, and periods of infertility. During pregnancy experienced premature labour at 28 weeks, and premature delivery at 32 weeks. Fetus small for dates at each ultrasound. The Mother's Father, and Mother's Grandfather are carriers of the t(11;22).

Child's weight at birth was 5 lbs, 4 oz, length was 19'. At current age of 8 years weighs 65 lbs, and is 4 feet tall. The boy as been diagnosed as having suck/swallow difficulties, breathing difficulties, hypotonia, odd shaped kidney, sacral dimple, delayed appearance of teeth, seizures requiring medication, frequent constipation and loose bowels, recurrent ear infections and sensory defensiveness. Also, deformed middle ear bones in the right ear. These bones should be pliant in order to transmit sound vibrations through to the inner ear. In this child's case they are a solid bone mass. Also, these same middle ear bones are small for the given passage size, resulting in hearing loss, only 40% hearing recorded at last hearing test. Was deaf for the first year of life, tubes rectified problems in left ear, right ear continued to have hearing loss. Tubes had to be removed,, tears resulted from the tubes, ear infection in these tears caused the tears to expand. Ear drum graphs were completed in both ears. The right ear showed deformed middle ear bones. A cyst grew on the ear drum of the right ear. At age 8 still has immature eustachian tubes in both ears.

The boy comprehends those around him, has approx age 3 level. Uses vocalized sounds and body language to express himself, and seems to understand the sign for toilet. He could say papa, mama and ball at age 5, but these words were lost with his hearing ability. He still requires diapers but is toilet regulated. He is able to roll front to back/back to front, and learned to crawl at age 5. He was able to sit independently at age 4. he was able to go from laying to sitting at age 2. Assisted walking achieved at age 4, unaided walking at age 8. The boy sometimes pulls out his hair by twirling it around his fingers, and sucks his pointer finger.

He is able to fingerfeed, spoon feed and can drink from a cup on his own.

Family #24, USA: A girl, born 2/5/91 to a 33 year old mom, and 35 year old father. The mother is the carrier of the t(11;22) and had 6 miscarriages. One other natural child, a boy, is a carrier of the balanced 11/22 translocation. Mother's mother was tested as normal, Mother's sister tested as normal. Mother's father is deceased. Three of his siblings are living and have been tested, two have had normal results, third one is pending.

Child's weight at birth was 5 lbs, 6 oz. Length was 19 inches. At current age of 8 years, weighs 60 lbs. The child has been diagnosed with cleft palate, micrognathia, Pierre Robin Sequence, ear pits and tags, low set ears, malformed outer ear, broad nose, hypotonia, odd shaped kidney, requires glasses, had delayed appearance of teeth, seizures that require medication, but have been weaned off currently, frequent urinary tract infections, recurrent ear infections, sensory defensiveness, and one kidney has an extra pelvis. Has had 4 sets of ear tubes, hearing seems to be affected by fluid build up.

The girl understands approx 80% of what is being said to her. She is able to do about 5-10 signs, has lots of facial expression and vocalization, she points and uses gestures. She can say mama, and her teachers name. She requires diapers.

The girl learned to sit independently at age 2 1/2, She is able to roll front to back/back to front, and learned to crawl at age 8.She learned to go from laying to sitting at age 5 1/2, wand walked assisted at age 6, unaided at age 8. . The girl has some self stim behaviours, looking up and shaking her head back and forth, shaking her hands wildily, and often crosses feet and scissors legs. Grinds teeth.

She is able to fingerfeed and spoon feed and drink from a cup with assistance. She is alot smarter than she appears, her parents think her sensory defensiveness impairs her performance more than any other factor. Since her brothers are eight and 5 years older than her, they have taken her everywhere and done regular things, making them plugged into the real world and she has greatly benefited from being one of the crowd.

Family #25, USA: A girl, born 4/4/95, to a 22 year old Mom and a 24 year old Dad. The Mother is the carrier of the t(11;22). She did not experience any miscarriages or periods of infertility, and experienced a normal pregnancy. The Maternal Grandmother and Maternal Aunt were tested and not shown to carry the translocation. Unable to test Maternal Father.

The child's weight at birth was 6 lbs, 2 oz. and length was 20 inches.At current age of 4 years and 10 months, the child weighs 31 pounds. The girl has been diagnosed with hypotonia, delayed appearance of teeth, gastroesophageal reflux, infrequent seizures, scoliosis, recurrent ear infections, hip dysplasia, sensory defensiveness. She also has ear tubes and hearing tests performed have come back invalid. She understands language, and knows Mommy, Daddy, Goodbye, Eat, More, Juice and Blues Clues. She is able to do the signs for food, more and bye. She is non-verbal. She requires diapers.

She is able to roll from back to front, front to back. She does not crawl. She is able to sit independently, a skill she learned at age 2. She is able to go from laying to sitting on her own, she learned to do this at age 4. She is not able to walk with or without assistance. She is able to fingerfeed on her own, and drink from a cup with assistance, but not on her own. she loves music, movies with singing and dancing. She loves to clap hands and dance with Mommy around the house. She liked to look at books and magazines. She doesn't like toys that move or talk like Elmo or stuffed animals. She is learning to move around in a wheelchair.

Family #26, USA: a boy, born 10/11/99 to a 32 year old Mom and a 33 year old Dad. The child passed away at 7 1/2 weeks after going into respiratory distress, all of his organs shut down and he had a stroke. The mother did not experience any miscarriages or periods of infertility. She did experience spotting during her 6th month of pregnancy. The mother is the carrier of the t(11;22) and two other children, both boys, are not affected by the translocation.

The child's weight at birth was 6 lbs 12.5 oz, and length was 21 inches. At time of death he weighed 8 lbs, 6 oz and was 21 3/4 inches long.

The boy was found to have a cleft palate, micrognathia, suck/swallow difficulties, imperforate anus, failure to thrive, low set ears, diaphragmatic hernia, sacral dimple, gastroesophageal reflux, loose bowels, and required a feeding tube, with Pregestimil formula the only form of nutrition. He also did aspirate.

Family #27, USA: A boy, born 11/27/97, to a 29 year old Mom, and a 30 year old Dad. The mother experienced one prior miscarriage, and periods of infertility. She also experienced some spotting during her pregnancy, but otherwise it was normal. The mother is the carrier of the t(11;22). There is one other child, a daughter, who has not been tested.

The child's weight at birth was 6 lbs, 11 oz, and length was 20 1/2 inches. At current age of 23 months, weighs 24 lbs and is 39 inches long.

The boy was found to have breathing difficulties, a broad nose, hypotonia, strabismus for which he wears glasses, delayed appearnace of teeth, micropenis, gastroesophageal reflux, frequent bouts of constipation and is sensory defensive. When he was first born he spent 6 days in the hospital with trouble breathing. A few weeks later he was back in the hospital with respiratory problems. After that he experienced ear infection which turned out to be caused by reflux. Because of his ongoing problems he was recommended for genetic testing, and it was then they discovered the translocation and that the mother was the carrier. the boy receives Physiotherapy, Occupational therapy, and speech therapy. He started to sit up at the age of 11 months. He is not crawling or walking yet. He has low muscle tone mostly in his upper body. He is able to drink from a cup with assistance and is able to chew.

FAMILY #28 – USA. A boy, born 7/22/86 to a 21-year-old mother and a 20 year old father. The mother is the carrier and experienced 1 miscarriage. Child weight at birth is 6 lbs 12 oz, and was 20 ¾ inches long. The child passed away at age 14, cause unknown. He was 130 lbs and 5’5”. He had a cleft palate, suck/swallow difficulties, imperforate anus, low set ears, hypotonia, abnormal functioning kidneys, microcephaly, sacral dimple, excess neck skin, enamel defects, infrequent seizures, frequent respiratory and ear infections. He also had a poor immune system. He was diagnosed with slight Hemihypertrophy, an extra bone in his left forearm from his elbow to his wrist. He had a deformed kidney that was removed at 5 days of age. He also had kyphosis, and a Small Atrial septal defect. He has had numerous sets of ear tubes and possibly mild hearing loss. He also had a malrotated bowel and colostomy. He understood everything that was said to him. He used American sign in school but also had his own hand gestures for communication. At around age 8 or 9 he started speaking in simple words that we could understand but was not legible for everyone. He required incontinence briefs. He was able to sit independently by age 3 and could finger and spoon feed, and use a cup unassisted. He was able to crawl but not walk. He was very willing to communicate, and always happy, smiling and social. He loved to shop, listen to music, read comic books, and movies. He was very affectionate and had a positive attitude and an outstanding sense of humour.

FAMILY #29 – CANADA. A boy, born 19/01/93 to a 35 year old mother and a 32 year old father. The mother is a carrier, as is her sister. The mom had 4 miscarriages. Her pregnancy was normal. The boy was 5 lbs, 13 oz at birth. At his current age of 8 years, 45 lbs, 45 inches tall. He was born with an imperforate anus, ear pits and tags, hypertonia, atrial septal defect, ventricular septal defect and PDS, very severe, corrected through surgery at age 1. He had a twisted bowel requiring colostomy at age 2 days. Imperforate anus diagnosed at birth but not totally imperforate. Anal tract surgery and manually dilated and colostomy revered at age 2. He speaks quite well, but a bit difficult to understand on some occasions. He started to talk at age 2 ½. He is able to use the toilet, finger and spoon feed and drink from a cup on his own.

He is an extremely social person who loves to communicate with others. He loves music and to dance and sing. At age 8 heis MLD Grade 2 in an integrated school. However, academically he operates at a pre-kindergarten level. Much improved fine motor skills and is able to follow lines vertically and horizontally, fair scissor skills. Does not consistently recognize colours except orange. Just beginning to grasp concept of counting concrete objects. Rote counting up to 13.

FAMILY #30 – DENMARK. A girl, born 7/9/99, to a 33 year old mother and a 29 year old father. It is unknown which parent is the carrier. The child weighed 2450g and was 49 cm long at birth. At her current age of 14 months, she weighs 9.3 kg and is 80 cm long. She had micrognathia, suck/swallow difficulties, ear tags, hypotonia, microcephaly. And suffers frequent constipation and ear infections. Her left eye is a bit lower than the other and has a smaller eyelid. In the first months, she has a very soft trachea, and caused loud breathing. At 3 months of age they discovered an atrial septal defect, which has since gotten smaller and caused her no difficulties. It is assumed she has a deformed inner right ear. Hearing loss on the right is about 80 dB. Left ear is find when she has no infections otherwise is about 40 dB. Hearing aides were used for 6 months. She is able to roll front to back, but cannot yet sit independently. She is almost always happy girl, which sleeps 10 hours non-stop at night. She especially loves music and books and wild movements like jumping on a gym ball or “flying” high in a hammock.

FAMILY #31 – ENGLAND. A girl, born 12/12/90 to 30 year old mother and father. The mother is a carrier, as is the maternal aunt and grandmother. The mother had 1 miscarriage. At birth the child was 7 lbs 8 oz and was 55 cm long.. Her only brother does not carry the translocation. At her current age of 9, weighs 28 kg and is 4 feet tall. She is hypotonic, wears glasses, has recurrent ear infections, frequent constipation and hip dislocation. She has severe learning difficulties, febrile convulsions, hypotonia. She has ear tubes and has had recent mastoiditis leading to the removal of infected bones. She is incontinent. She was able to sit independently at age 3, and go from laying to sitting at about 5 years of age. She is able to finger feed and drink from a cup with assistance. She loves music, and is very social. Loves playing with your hands and jewelry and sitting on your lap.

FAMILY #32 – USA. A boy, born 10/02/00 to 26-year-old parents. Mom is the carrier of 11/22. At birth he weighed 6 lbs, 11 oz and was 19 inches long. He has a cleft palate, micrognthia, suck/swallow and breathing difficulties, ear pits, tags and low set ears, hypotonia, a missing kidney, additional pair of ribs, sacral dimple, strabisumus, epicanthal folds, clubfoot, excess neck skin, micropenis, undescended testes, gastro esophageal reflux, sensory defensiveness and had an operation to repair a malrotated gut. He is also tube fed.

FAMILY #33 – ENGLAND. A girl, born 30/05/86 to 30-year-old mom and a 32 year old dad. The mother is the carrier and had 1 miscarriage. The mother’s sister and brother are both carriers, as is her father. At birth the child weighed 5 lbs, 5 oz and was 46 cm long. She has suck/swallow difficulties, diaphragmatic hernia, hypotonia, enamel defects, gastroesophageal reflux, seizures requiring medication, frequent constipation, scoliosis, frequent respiratory and ear infections and sensory defensiveness. She required an operation to correct a malrotation of her bowel. She has trouble eating, and cannot chew yet, and suffers from indigestion and heartburn most of the time, probably due to the air she swallows when eating. She dribbles profusely and is worse since adult teeth have arrived in her mouth without any signs of her baby teeth going! She has an atrial septal defect that is being monitored. She has ear tubes, however her hearing is normal. She can understand words that are particular to her needs, ie- Do you want some milk? Do you want to look at a book? She is incontinent. She was able to sit independently at age 4. She is not able to feed herself, but can drink from a cup with assistance. She loves to be sung to, read to and cuddled on the lap. She laughs a lot and grumbles a lot! She adores any type of music.

FAMILY #34 – USA. A boy, born 5/1/86 to an 18-year-old mother and a 22-year-old father. He died of a heart defect. Mom is the carrier and had 3 miscarriages. He weighed 7 lbs 11 oz at birth, and had a cleft palate, suck/.swallow difficulties, imperforate anus, ear tags and malformed outer ear, and cyst on the brain.

FAMILY #35 – USA. A boy, born 9/6/99 to an 18-year-old mom and a 22-year old father. Mom is the carrier. The boy weighed 7 lbs 15 oz at birth and was 21 ½ “ long. At the child’s current age of 9 months, he weighs 14 lbs and is 26 inches long. He has a high palate, micrognathia, suck/swallow difficulties, breathing issues (Pierre Robin sequence) ear tags and low set ears, diaphragmatic hernia, hypotonia, excess neck skin, recurrent ear infections, hip dislocation and heart defects Atrial septal defect and PDA. He is very good with his arms and hands. He loves to play with toys, especially ones that play music or light up. He has a feeding tube but is now starting to eat baby cereal and baby food from jars. He has sucking problems but loves to suck on his pacifier.

FAMILY #36 – BRAZIL. A boy, born 4/8/97 to a 37 year old mom and a 23 year old father. Mom is the carrier and had 2 miscarriages prior. He was 2150 kg at birth. At current age of 2 years 10 months, he weighs 10.60 kg, and is 90 cm long. He had a cleft palate, micrognathia, suck/swallow difficulties, malformed outer ear, hypotonia, micropenis, gastroesophageal reflux, frequent constipation, frequent respiratory infections, an atrial septal defect. He was able to sit independently at age 2, and cold go from laying to sitting at 2 years, 6 months. Mom says he is a very good, sweet and lovely child.

FAMILY #37 – USA. A girl, born 1/30/82 to a 21-year-old mother and a 23-year-old father. The mother is the carrier and has not experienced any miscarriages. The girl was 4 lbs, 15 oz at birth, ad 21 ½ inches long. At child’s current age of 18 years, she is 85 lbs. She has a high palate, micrognathia, suck/swallow difficulties, ear pits and low set ears, hypotonia, strabismus, wears glasses, is considered legally blind, has enamel defects, seizures that require medication, scoliosis, frequent respiratory and ear infections, hip dislocation, and sensory defensiveness. She frequently dislocates her knees and requires knee supports. She also wears braces to support her arches and ankles. She had ear tubes on more than one occasion, and still has them. Puberty was on-time. She will respond to simple commands such as no, don’t touch, look up, sit up, open your mouth and her name. She will respond to touching certain toys on request, if she feels like it. She used to say mom, bot (for bottle) and her brother’s name (Ian) and no. She started speaking at 8 months but no longer talks. She is incontinent. She was able to sit independently at age 9-10 months and able to go from laying to sitting at 1 year old. She was able to walk assisted at age 3 years. She is able to finger feed and spoon feed, and drink from a cup on her own. She loves music. She likes to strum the guitar, she likes to be sung to. Sometimes she will try to sing along. Her favourite toys are the ones that play music or make noise. She prefers quite environments and does well when being held and spoken to softly. She loves being outside and being taken for strolls and rides in the car. She enjoys floating in the pool for short periods.

FAMILY #38 – UK. A boy, born 6/4/96 to 18-year-old parents. Mother is the carrier, as is the maternal grandfather and greatgrandfather. At birth the boy weighed 7 lbs, 0.5 oz, and was 49 cm long. At his current age of 4 years, he weighs over 2 stone, and is 104 cm long. He had a cleft palate, micrognathia, suck/swallow difficulties, ear tags, undescended testes, broad nose, frequent constipation and recurrent ear infections. His mental age is around that of a 10 month old child. He does not walk or crawl, not saying any words but does babble. He has had 2 sets of ear tubes. He has a perforated ear drum from numerous ear infections. He understands what is being said to him and will answer with different sounds. He was able to sit independently at 18 months of age, and was able to go from laying to sitting at 30 months. He can drink from a cup with assistance. He loves people and music and is a very happy and contented boy. He loves music and noisy toys such as his electric keyboard.

Results of a survey of 35 families from 1996

Issues our children face

 Our families