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REFERENCE
LIST OF T(11;22) ARTICLES
(don't
be deceived by some of the titles, they do refer to cases of
Emanuel Syndrome or the t(11;22)
Prieto
JC,
Garcia
NM
, Elder FF,
Zinn
AR
,
Baker LA.
Phenotypic expansion of the supernumerary derivative (22)
chromosome syndrome: VACTERL and Hirschsprung's disease. J
Pediatr Surg. 2007 Nov;42(11):1928-32.
------
Abeliovich
D. 1990. The translocation 11q;22q: A novel unbalanced karyotype.
Am J Med Genet 37:288.
Alfi
OS, Sanger RG, Donnell GM. 1975. Trisomy 22: A clinically
identifiable syndrome. Birth
Defects Orig Artic Ser. 11:241-245.
Allanson
JE. 1993. Unusual segregation for 11q;22q parental
translocation. Prenat Diagn 13:889-891.
Anton
E. 2004. Preferential alternate segregation in he common
t(11;22)(q23;q11) reciprocal translocation: sperm FISH analysis
in two brothers. Reprod BioMed Online 9:637-644.
Armstrong
SJ, Goldman ASH, Speed RM, Hultén MA. 2000. Meiotic studies of
a human male carrier of the common translocation, t(11;22)
suggests postzygotic selection rather than preferential 3:1 MI
segregation as the cause of liveborn offspring with an
unbalanced translocation. Am J Hum Genet 67:601-609.
Ashley
T, Gaeth AP, Inagaki H, Seftel A, Cohen MM, Anderson LK,
Kurahashi H, Emanuel BS. 2006. Am J Hum Genet 79: 524-538.
Aurais
A, Laurent C. 1975. Trisomie 11q. Individualisation d’un
nouveau syndrome. Ann Genet 18:189-191.
Aurias
A, Ture C, Michiels Y, Sinet P-M, Graveleau D, Lejeune J. 1975.
Deux cas de trisomi 11q(q23→ qter) par translocation
t(11;22)(q231;q111) dans deux familles différentes. Ann Genet
18:185-188.
Ayraud
N, Galiana A, Lloyd M, Deswarte M. 1976. Trisomie
11q(q23.1→ qter) par translocation maternelle
t(11;22)(q23.1;q11.1). Une nouvelle observation. Ann Genet
19:65-68.
Babu
KA, Verma RS, Nigam RB, Alsheikh SN. 1986. Precise location of
breakpoints in a frequent reciprocal translocation between
chromosomes 11 and 22. J Heredit 77:63-64.
Balci
S, Engiz O, Yilmaz Z, Baltaci V. 2006. Partial trisomy (11;22)
syndrome with manifestations of Goldenhar sequence due to
maternal balanced t(11;22). Genet Couns 17:281-289.
Bartsch
O, Loitzsch A, Kozlowski P, Mazauric M-L, Hickmann G. 2005.
Forty-two supernumerary marker chromosomes (SMCs) in 43 273
prenatal samples: chromosomal distribution, clinical findings,
and UPD studies. Eur J Hum Genet 13:1192-1204.
Beedgen
B, Nutzenadel W, Querfeld U, Weiss-Wichert P. 1986. Partial
trisomy 22 and 11 due to a pternal 11;22 translocation
associated with Hirschprung disease. Eur J Pediatr. 145:232-235.
Benítez
J, Ayuso C, Garcia Aparicio J, Saez E, Perez Sotelo A, Bello yMJ.
1981. Trisomía parcial 11q;22;. Aportación de dos nuevos casos
en dos familias portadoras de translocatión. An Esp Pediatr
15:293-300.
Biederman
BM, Lin CC, Lowry RB, Somerville R. 1980. Tertiary trisomy
(22q11q),47,+der(22),t(11;22). Hum Genet 53:173-177.
Bofinger
MK, Soukup SW. 1979. Cat eye syndrome. Partial trisomy 22 due to
translocation in the mother. Am J Dis Child 131:893-897.
Boue
A, Gallano P. 1984. A collaborative study of the segregation of
inherited chromosome structural rearrangements in 1356 prenatal
diagnoses. Prental Diagnosis 4:45-67.
Blancato
JK, Eglinton G, George J, Benkendorf J, Pinckert T, Meck J.
1995. Prenatal diagnosis of partial trisomy through in situ
hybridization on amniocytes with whole chromosome and centromere-specific
DNA probes. A case report. J Reprod Med 40:537-539.
Chandley
AC. 1992. Involvement of 3:1 disjunction in he common reciprocal
translocation t(11;22)(q23.3;q11.2). Hum Genet 90:191-192.
Chauveau
P, Gruchy D, Herouin C, Levesque L. 1980. A propose d’une
nuvelle observtion de trisomie 11q secondaire a une
translocation maternelle t(11;22)(q23.1;q11.1). Ann Genet
23:213-215.
Chen
S-P, Liu F-F, Jan S-W, Yang Y-C, Lan, C-C. 1996. Prenatal
diagnosis of supernumerary der(22)t(11;22) associated with the
Dandy-Walker malformation in a fetus. Prenat Diagn 16:1137-1140.
Chetcuti-Ganado
C, Grech V. 2003. Complex congenital cardiac disease in a
patient with partial trisomy for the long arms of chromosomes 11
and 22. Cardiol Young 13:481-483.
Clark
RD. 1991. A cytogenetic abnormality in tuberous sclerosis.
Report of an affected infant with
47,XX,+der22,t(11;22)(q23.3;q11.2)mat. Ann New York Acad Sci
615:243-251.
Daniel
A, Hook EB, Wulf G. 1989. Risks of unbalanced progeny at
amniocentesis to carriers of chromosome rearrangements: data
from United States and Canadian Laboratories. Am J Med Genet
31:14-53.
Dawson
AJ, Mears AJ, Chudley AE, Bech-Hansen T, McDermid H. 1996.
Der(22)t(11;22) resulting from a paternal de novo translocation,
adjacent 1 segregation, and maternal heterodisomy of chromosome
22. J Med Genet 33:952-956.
Dean
JCS, Couzin DA, Gray ES, Stephen GS. 1991. Apparent Fryns’s
syndrome and aneuploidy: evidence for a disturbance of the
midline developmental field. Clin Genet 40:349-352.
De
Beaufort C, Schneider F, Chafai R, Colette JM, Delneste F,
Pierquin G. 2000. Diaphragmatic hernia and Fryns syndrome
phenotype in partial trisomy 22. Genet Counsel 11:181-182.
De
Lonlay-Debeney P, De Blois M-C, Bonnet D, Amiel J, Abdie V, Picq
M, Lyonnet S, Sidi D, Munnich A, Veremans M, Cormier-Daire V.
1998. Ebstein anomaly associated with rearrangements of
chromosome region 11q. Am J Med Genet 80:157-159.
Drum
ET, Herlich A, Levine B, Mayhew JF. 2005. Anesthesia in a
patient with chromosome 11;22 translocation: a case report and
literature review Pediatric Anaesthesia 15:985-987.
Dufke
A, Leipoldt M, Enders H. 2003. Chromosomal mosaicism in familial
reciprocal translocation carriers: Necessity of karyotyping
different tissues. Am J Med Genet 121A:292.
Emanuel
B, Zackai EH, Aronson MM, Mellman WJ, Moorhead PS. 1976.
Abnormal chromosome 22 and recurrence of trisomy-22 syndrome. J
Med Genet 13:501-506.
Edelmann
L, Spiteri E, Koren K, Pulijaal V, Bialer MG, Shanske A,
Goldberg R, Morrow BE. 2001. AT-Rich palindromes mediate the
constitutional t(11;22) translocation. Am J Hum Genet 68:1-13.
Edelmann
L, Spiteri E, McCain, N, Goldberg R., Pandita RK, Duong S, Fox
J, Blumenthal D, Lalani SR, Shaffer LG, Morrow BE. 1999. A
common breakpoint on 11q23 in carriers of the constitutional
t(11;22) translocation. Am J Hum Genet 65:1608-1616.
Estop
AM, Cieply KM, Munne S, Feingold E. 1999. Multicolor
fluorescence in situ hybridization analysis of the spermatozoa
of a male heterozygous for a reciprocal translocation
t(11;22)(q23;q11). Hum Genet 104:412-417.
Fraccaro
M, Lindsten J, Ford CE, Iselius L. 1980. The 11q;22q
translocation: A European collaborative analysis of 43 cases.
Hum Genet 56:21-51.
Feldman
GM, Sparkes RS. 1978. The problem of partial trisomy 22
reconsidered. Hum Genet 45:97-101.
Fu
W-N, Borgaonkar DS, Kadewig PP, Weaver J, Pomerance HH. 1976.
Structural aberrations of the long arm of chromosome no. 22.
Report of a family with translocation t(11;22)(q25;q11). Clin
Genet 10:329-336.
Fung
J, Munné S, Garcia J, Kim U-J, Weier HUG. 1999. Molecular
cloning of translocation breakpoints in a case of constitutional
translocation t(11;22)(q23;q11) and preparation of probes for
preimplantation genetic diagnosis. Reprod Fertil Dev 11:17-23.
Fuster
C, Miguez L, Miro R, Rigola MA, Prez A, Egozcue J. 1997.
Familial complex chromosome rearrangement ascertained by in situ
hybridization. J
Med Genet 34:164-166.
Giraud
F, Mattei J-F, Mattei M-G, Bernard R. 1975. Trisomie partielle
11q et translocation familiale 11-22. Humangenetik 28:342-346.
Gotter
AL, Shaikh TH, Budarf ML, Rhodes CH, Emanuel BS. 2004. A
palindrome-mediated mechanism distinguishes translocations
involving LCR-B of chromosome 22q11.2. Hum Mol Genet 13:103-115.
Griffin
CA, McKeon C, Israel MA, Gegonne A, Ghydael J, Stehelin D,
Douglass EC, Green AA, Emanuel BS. 1986. Comparison of
constitutional and tumor-associated 11;22 translocations:
Nonidentical breakpoints on chromosomes 11 and 22. Proc Natl
Acad Sci 83:6122-6126.
Gustavson
KH, Hagberg B, Finley SC, Finley WH. 1962. An apparently
identical extra autosome in two severely retarded sisters with
multiple malformations. Cytogenetics 1:32-41.
Guven
MA, Ceylaner G, Ceylaner S, Coskun A. 2006. Prenatal diagnosis
of a case with Emanuel Syndrome (supernumerary der(22) syndrome.
Poster Abstract. Ultrasound Ob Gyn 28:522.
Hall
B. 1963. Mongolism and other abnormalities in a family with
trisomy 21-22 tendency. Acta
Pediatrica Suppl. 146:77-91.
Hill
AS, Foot NJ, Chaplin TL, Young BD, 2000. The most frequent
constitutional translocation in humans, the t(11;22)(q23;q11) is
due to a highly specific Alu-mediated recombination. Hum Mol
Genet 9:1525-1532.
Hou
J-W. 2003. Supernumerary chromosome marker der(22)t(11;22)
resulting from a maternal balanced translocation. Chang Gung Med
J 26:48-51.
Imataka
G, Takaya Y, Hagisawa S, Yamanouchi H, Eguchi M. 2004. Trisomy
11/22 diagnosed by spectral karyotyping (SKY). Genetic
Counselling 15:391-394.
Iselius
L, Faxelius G. 1978. Trisomy 22 in a newborn girl with multiple
malformations. Hereditas 89:269-271.
Iselius
L, Lindsten J, Aurias A, Fraccaro M, Bastard C, Botteli AM, Bui
T-H, Caufin D, Dalprà N, Dutrillaux B, Fukushima Y, Geraedts
JPM, De Grouchy J, Gyftodimou J, Hanley AL, Hansmann I, Ishii T,
Jalbert P, Jingeleski S, Kajii T, von Koskull H, Niikawa N, Noel
B, Pasquali F, Probeck HD, Robinson A, Roncarati E, Sachs E,
Scappaticci S, Schwinger E, Simoni G, Veenema H, Vigi V, Volpato
S, Wegner R-D, Welch JP, Winsor EJT, Zhang S, Zuffardi O. 1983.
The 11q;22q translocation: A collaborative study of 20 new cases
and analysis of 110 families. Hum Genet 64:343-355.
Ivanovic
V, Grkovic S. 2003. Unbalanced 11;22 translocation – case
report. ABSTRACT-4th European Cytogenetics
Conference, Italy.
Jobanputra
V, Chung WK, Hacker AM, Emanuel BS, Warburton D. 2005. A unique
case of der(11)t(11;22),-22 arising from 3:1 segregation of a
maternal t(11;22) in a family with co-segregation of the
translocation and breast cancer. Prenat Diagn 25:683-686.
Kadir
RA, Hastings R, Economides DL. 1997. Prenatal diagnosis of
supernumerary chromosome derivative (22) due to maternal
balanced translocation in association with diaphragmatic hernia:
a case report. Prenat Diagn 18:761-764.
Katafuchi
Y, Hashino K, Maeno Y, Komori H, Yamashita Y, Horikawa M, Abe K,
Niikawa N, Kato H. 1990. Partial trisomy 22 with Dandy-Walker
malformation. Acta Paediatr Jpn. 32:566-570.
Kato,
T., et al. 2007. Age has no effect on de novo constitutional
t(11;22) translocation frequency in sperm. Fertility and
Sterility.
Kato
T, Inagaki H, Yamada K, Ohye T, Kowa H, Nagaoka K, Taniguchi M,
Emanuel BS, Kurahashi H. 2006. Genetic variation affects de novo
translocation frequency. Science 311:971.
Kessel
E, Pfeifer RA. 1977. 47,XY,+der(11;22)(q23;q12)following
balanced translocation t(11;22)(q23q12)mat. Remarks on the
problem of trisomy 22. Hum Genet 37:111-116.
Koduru
PRK, Chaganti RSK. 1989. Meiotic chromosome segregation in human
t(11;22)(q23;q11) carriers: a theoretical consideration. Genome
32:24-29.
Kogo
H, Inagaki H, Ohye T, Kato T, Emanuel BS, Kurahashi BS. 2007.
Nucleic Acids Research, 1-11.
Kulharya
AS, Mills Lovell C, Flannery DB. 2002. Unusual mosaic karyotype
resulting from adjacent 1 segregation of t(11;22): Importance of
performing skin fibroblast karyotype in patients with
unexplained multiple congenital anomalies. Am J Med Genet
113:367-370.
Kurahashi
H, Emanuel BS. 2001a. Long AT-rich palindromes and the
constitutional t(11;22) breakpoint. Hum Mol Genet 10:2605-2617.
Kurahashi
H, Emanuel BS, 2001b. Unexpectedly high rate of de novo
constitutional t(11;22) translocation in sperm from normal
males. Nat Genet 29:139-140.
Kurahashi
H, Inagaki H, Ohye T, Kogo H, Kato T, Emanuel BS. 2006.
Palindrome-medited chromosomal translocations in humans. DNA
repair 5:1136-1145.
Kurahashi
H, Inagaki H, Yamada K, Ohye T, Taniguchi M, Emanuel BS, Toda T.
2004. Cruciform DNA structure underlies the etiology for
palindrome-mediated human chromosomal translocations. J Biol
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Kurahashi
H, Shaikh TH, Emanuel BS. 2000. Alu-mediated PCR artefacts and
the constitutional t(11;22) breakpoint. Hum Mol Genet
9:2727-2732.
Kurahashi
H, Shaikh TH, Zackai EH, Celle L, Driscoll DA, Budarf ML,
Emanuel BS, 2000. Tightly clustered 11q23 and 22q11 breakpoints
permit PCR-based detection of recurrent constitutional t(11;22).
Am J Hum Genet 67:763-768.
Kurahashi
H, Shaikh TH, Hu P, Roe BA, Emanuel BS, Budarf, ML. 2000.
Regions of genomic instability on 22q11 and 11q23 as the
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Laurent
C, Biemont M-C, Bethenod M, Cret L, David M. 1975. Deux
observations de trisomie 11q(q23.1-qter) avec la même anomalie
des organs genitaux externes. Ann Genet 18:179-184.
Lin
AE, Bernar J, Chin AJ, Sparkes RS, Emanuel BS, Zackai EH. 1986.
Congenital heart disease in supernumerary der(22),t(11;22)
syndrome. Clin Genet 29:269-275.
Lindblom
A, Sandelin K, Iselius L, Dumanski J, White I, Nordenskjöld M,
Larsson C. 1994. Predisposition for breast cancer in carriers of
constitutional translocation 11q;22q. Am J Hum Genet 54:871-876.
Lindenbaum
RH. 1990. Unusual segregation of constitutional 11q;22q
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segment, followed by 3:1 segregation at meiosis I. Hum Genet
85:143.
Lockwood
DH, Farrier A, Hecht F, Allanson J. 1989. Not all chromosome
imbalance resulting from the 11q;22q translocation is due to 3:1
segregation in first meiosis. Hum Genet 83:287-288.
Lurie
IW, Podleschuk LV. 1992. 11q;22q translocation: Third case of
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Lurie
IV, Rumyantseva NV, Poleschuk LV, Kozlova SI, Kulak VD, Maunchik
VD, Gorelik LB, Zolotukhina TV, Kuznetsov MI. 1992.
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Mackie
Ogilvie C, Scriven PN. 2002. Meiotic outcomes in reciprocal
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Macville
MVE, Loneus WH, Marcus-Soekarman D, Huys EHLPG, Schoenmakers
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Maluf
SW, Felix TM, Schwartz IVD. 2000. Partial trisomy 22qpter-q11
and 11q23-qter: an extra chromosome originated from a
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Brazilian Journal of Dysmorphology and Speech-Hearing Disorders.
3:11-16. {ABSTRACT}
Martin
RH. 1984. Analysis of human sperm chromosome complements from a
male heterozygous for a reciprocal translocation
t(11;22)(q23;q11). Clin Genet 25:357-361.
Najafzadeh
TM, Dumars, KW. 1981. Duplication of distal 11q and 22p
occurrence in two unrelated families. Am J Med Genet 8:341-347.
Nakai
H, Yamamoto Y, Kuroki U. 1979. Partial trisomy of 11 and 22 due
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Narahara
K, Kodama Y, Kimura S, Kamoi M, Inoue H, Kimoto H. 1979. A case
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A, Leroux M, Bresson JL, Menget A, Burguet A, Raffi A. 1987. La
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Oakley
JR, Asplin EP, Taitz LS. 1976. Balanced translocation, impaired
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Pai
GA, Thomas GH, Leonard CO, Ward JC, Valle DL, Pyeritz RE. 1979.
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Pallota
E, Fusilli P, Ehresmann T, Cinti R, Verrotti A, Morgese G. 1996.
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Pangalos
C, Couturier J, Bartsocas C, Theodorou S. 1980. Trisomie
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PK, Shaw RL, Gunn TR. 1987. The neonatal recognition of partial
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Pohkn
H, Thermn E, Uchida I. 1981. Partial 11q trisomy syndrome. Hum
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Rassu
S, Pilloni G, Boccone , Puddu R, Bernard L, Rossino R, Gasperini
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A, Schmid W, Auf der Maur P, Moser H, Degenhardt KH, Geisler M,
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TH, Budarf ML, Celle L, Zackai EH, Emanuel BS, 1999. Clustered
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Q, Martin RH. Aneuploidy in human spermatozoa: FISH analysis in
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Slater
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S, Takabayashi T, Sasaki H, Sasamoto K, Shintaku Y, Li Z-J,
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Vigliano
P, Duca S, Isocrono A, Silengo M. 2003. Hippocampal malrotation
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HUG, Munné S, Fung J. 1999. Patient-specific probes for
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N, Holland H, Hueckel D, Froster UG, Hauser HJ, Kiess W. 2003.
Partial trisomy 22 resulting from rearrangements between
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Woo
HY, Cho HJ, Kong SY, Kim HJ, Jeon HN, Kim EC, Park H, Kim YJ,
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Wieland
I, Muschke P, Volleth M, Ropke A, Pelz A-F, Stumm M, Wieacker P.
2006. High incidence of familial breast cancer segregates with
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45:945-949.
Youings
S, Ellis K, Ennis S, Barber J, Jacobs P. 2004. A study of
reciprocal translocations and inversions detected by light
microscopy with special reference to origin, segregation, and
recurrent abnormalities. Am J Med Genet 126A:46-60.
Zackai
EH, Emanuel BS, 1980. Site-specific translocation,
t(11;22)(q23q11), in several unrelated families with
3:1 meiotic disjunction. Am J Med Genet 7:507-521.
Zhao
H-q, Rope AF, Saal HM, Blough-Pfau RI, Hopkin RJ. 2003. Upper
airway malformation associated with partial trisomy 11q. Am J
Med Genet 120A:331-33
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