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Information on the 11/22 translocation and
Emanuel Syndrome
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Published journal articles that have been written on t(11;22) and Emanuel Syndrome.

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 paternal 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. Prenatal 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.

Carter MT, St Pierre SA, Zackai EH, Emanuel BS, Boycott KM. (2009) Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals. Am J Med Genet A. 149A(8):1712-21.

Carter MT, Barrowman NJ, St Pierre SA, Emanuel BS, Boycott KM. (2010) Risk of breast cancer not increased in translocation 11;22 carriers: analysis of 80 pedigrees. Am J Med Genet A. 152A(1):212-4

Chen CP, Wang TH, Chang TY, Lee CC, Chen WL, Chen LF, Wang W. (2006) Prenatal diagnosis of the supernumerary der(22)t(11;22) syndrome associated with abnormal sonographic findings. Genet Couns.17(4):469-72.

Chandley AC. (1992) Involvement of 3:1 disjunction in the 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.

Gremeau AS, Coste K, Blanc P, Goumy C, Francannet C, Dechelotte PJ, Vago P, Laurichesse-Delmas H, Labbe A, Lemery D, Sapin V, Gallot D.  (2009). Congenital diaphragmatic hernia and genital anomalies: Emanuel syndrome. Prenat Diagn. 29(8):816-8.

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, 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, Inagaki H, Ohye T, Kogo H, Tsutsumi M, Kato T, Tong M, Emanuel BS. (2010) The constitutional t(11;22): implications for a novel mechanism responsible for gross chromosomal rearrangements. Clin Genet. 78(4):299-309.

 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-mediated 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 Chem 279:35377-35383.

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 etiology for the recurrent constitutional t(11;22). Hum Mol Genet 9:1665-1670.

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 translocation may be explained by crossover in interchange 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 imbalance not due to 3:1 nondisjunction in first meiosis. Am J Med Genet 42:216.

Lurie IV, Rumyantseva NV, Poleschuk LV, Kozlova SI, Kulak VD, Maunchik VD, Gorelik LB, Zolotukhina TV, Kuznetsov MI. (1992) Translocations 11q;22q; clinical and cytogenetic examination. Genetika 28:128-135.

Mackie Ogilvie C, Scriven PN. (2002) Meiotic outcomes in reciprocal translocation carriers ascertained in 3-day human embryos. Eur J Hum Genet 10:801-806.

Macville MVE, Loneus WH, Marcus-Soekarman D, Huys EHLPG, Schoenmakers EFPM, Schrank-Hacker A, Emauel BS, Engelen JJM. (2006) XX male with sex reversal and a de novo 11;22 translocation. Am J Med Genet 140:1973-1977.

Maluf SW, Felix TM, Schwartz IVD. (2000) Partial trisomy 22qpter-q11 and 11q23-qter: an extra chromosome originated from a constitutional t(11;22) translocation in a Brazilian family. 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.

Medne L, Zackai EH, Emanuel BS. (2007) Emanuel Syndrome. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-.2007 Apr 20 [updated 2010 May 11].

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 to familial translocation t(11;22)(q23;q11), inherited in three generations. Hum Genet 51:349-355.

Narahara K, Kodama Y, Kimura S, Kamoi M, Inoue H, Kimoto H. (1979) A case of partial trisomy 22 resulting from maternal 11/22 translocation. Jpn J Hum Genet 24:253-258.

Noel B, Levy M, Rethore M-O. (1976) Trisomie partielle du bras long du chromosome 11 par malségrégation d’une translocation maternelle t(11;22)(q231;q111). Annals de Génétique, 19:136-139.

Noir A, Leroux M, Bresson JL, Menget A, Burguet A, Raffi A. (1987) La trisomie 11q: à propos de deux cas. Pediatrie 42:441-444.

Oakley JR, Asplin EP, Taitz LS. (1976) Balanced translocation, impaired sperm mobility, and offspring anomaly. Arch Dis Childh 51:638-640.

Ohye T, Inagaki H, Kogo H, Tsutsumi M, Kato T, Tong M, Macville MV, Medne L, Zackai EH, Emanuel BS, Kurahashi H. (2010) Paternal origin of the de novo constitutional t(11;22)(q23;q11). Eur J Hum Genet. 18(7):783-7

Pai GA, Thomas GH, Leonard CO, Ward JC, Valle DL, Pyeritz RE. (1979) Syndromes due to chromosomal abnormalities: partial trisomy 22, interstitial deletion of the long arm of 13, and trisomy 8. The John Hopkins Med J 145:162-169.

Pallota E, Fusilli P, Ehresmann T, Cinti R, Verrotti A, Morgese G. (1996) Cerebral defects confirm midline developmental field disturbances in supernumerary der(22),t(11;22) syndrome. Clin Genet 50:411-416.

Pangalos C, Couturier J, Bartsocas C, Theodorou S. (1980) Trisomie partielle 11q par malségrégation d’une translocation maternelle t(11;22)(q23;q11.1). La Nouvelle Presse Médicale 41:3065-3067.

Pattemore PK, Shaw RL, Gunn TR. (1987) The neonatal recognition of partial 11q trisomy (previously ‘Trisomy 22’). Aust Paediatr J 23:197-199.

Penchaszadeh VB, Coco R. (1975) Trisomy 22. Two new cases and delineation of the phenotype. J Med Genet 12:193-199.

Petkovic I, de Capoa A, Giancotti P, Barisic I. (1996) Unusual segregation of t(11;22) resulting from crossing-over followed by 3:1 disjunction at meiosis I. Clin Genet 50:515-519.

Pohkn H, Thermn E, Uchida I. (1981) Partial 11q trisomy syndrome. Hum Genet 58: 129-134.

Prieto JC, Garcia NM, Elder FF, Zinn AR, Baker LA. (2007)  Phenotypic expansion of the supernumerary derivative (22) chromosome syndrome: VACTERL and Hirschsprung's disease. J Pediatr Surg. 42(11):1928-32.

Rassu S, Pilloni G, Boccone , Puddu R, Bernard L, Rossino R, Gasperini D. (2003) Der(11)t(11;22) resulting from a balanced reciprocal subtelomeric translocation in a Sardinian family. ABSTRACT. 4th European Cytogenetics Conference, Italy.

Schinzel A, Schmid W, Auf der Maur P, Moser H, Degenhardt KH, Geisler M, Grubisic A. 1981) Incomplete trisomy 22. I. Familial 11/22 translocation with 3:1 meiotic disjunction. Delineation of a common clinical picture and report of nine new cases from six families. Hum Genet 56:249-262.

Shaikh TH, Budarf ML, Celle L, Zackai EH, Emanuel BS, (1999) Clustered 11q23 and 22q11 breakpoints and 3:1 meiotic malsegregation in multiple unrelated t(11;22) families. Am J Hum Genet 65:1595-1607.

Shi Q, Martin RH. (2001) Aneuploidy in human spermatozoa: FISH analysis in men with constitutional chromosome abnormalities, and in infertile men. Reproduction 121:655-666.

Simi P, Ceccarelli M, Barachini A, Floridia G, Zuffardi O. (1992) The unbalanced offsring of the male carriers of the 11q;22q translocation: nondisjunction at meiosis II in a balanced spermatocyte. Hum Genet 88:482-483.

Slater HR, Voulaire LE, Vaux CE, Bankier A, Pertile M, Choo KHA. (1993) Confirmation of trisomy 22 in two cases using chromosome painting: Comparison with t(11;22). Am J Med Genet 46:434-437.

Soler A, Carrio A, Perez-Vidal MT, Borrell A, Fortuny A. (1993) Unusual segregation for 11q;22q parental translocation in  triplet pregnancy: prenatal diagnosis in chorionic villi and amniotic fluid. Prenat Diagn 13:137-141.

Sou S, Takabayashi T, Sasaki H, Sasamoto K, Shintaku Y, Li Z-J, Ozawa N, Yajima A. (1987) Prenatal diagnosis of partial trisomy 22 derived from a maternal t(11;22)(q23;q11). Tohoku J exp Med 153:389-393.

Spiteri E, Babcock M, Kashork CD, Wakui K, Gogineni S, Lewis DA, Williams KM, Minoshima S, Saski T, Shimizu N, Potocki L, Pulijaal V, Shanske A, Shaffer LG, Morrow BE. (2003) Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes. Hum Mol Genet 12:1823-1837.

Tachdjian G, Muti C, Gaudelus J, Druart L, Martin B, Tamboise E, Nessmann C. (1992) Unbalanced karyotype due to adjacent 1 segregation of t(11;22)(q23.3;q13.2). Ann Genet 35:231-233.

Tapia-Páez I, O’Brien KP, Kost-Alimova M, Sahlén S, Kedra D, Bruder CE, Andersson B, Roe BA, Hu P, Imreh S, Blennow E, Dumanski JP. (2000) Fine mapping of the constitutional translocation t(11;22)(q23;q11). Hum Genet 106:506-516.

Tong M, Kato T, Yamada K, Inagaki H, Kogo H, Ohye T, Tsutsumi M, Wang J, Emanuel BS, Kurahashi H. (2010) Polymorphisms of the 22q11.2 breakpoint region influence the frequency of de novo constitutional t(11;22)s in sperm. Hum Mol Genet. 19(13):2630-7.

Toyoshima M, Yonee C, Maegaki Y, Yamamoto T, Shimojima K, Maruyama S, Kawano Y. (2009) Vertebral fusion in a patient with supernumerary-der(22)t(11;22) syndrome. Am J Med Genet A. 149A(8):1722-6.

Tovo P-A, Davi G, Fraceschini P, Delpiano A. (1986) Thymic hormone dependent immunodeficiency in an infant with partial trisomy of chromosome 22. Thymus 8:313-318.

Van Assche E, Staessen C, Vegetti W, Bonduelle M, Vandervorst M, Van Steirteghem A, Liebers I. (1999) Preimplantation genetic diagnosis and sperm analysis by fluorescence in-situ hybridization for the most common reciprocal translocation t(11;22). Mol Hum Reprod 5:682-690.

Vigliano P, Duca S, Isocrono A, Silengo M. (2003) Hippocampal malrotation in supernumerary der(22) syndrome and epilepsy: a case report. J Ped Neuro 1:39-42.

Weier HUG, Munné S, Fung J. (1999) Patient-specific probes for preimplantation genetic diagnosis of structural and numerical aberrations in interphase cells. J Asst Reprod Genet 16:182-191.

Werding N, Holland H, Hueckel D, Froster UG, Hauser HJ, Kiess W. (2003) Partial trisomy 22 resulting from rearrangements between chromosomes 11/22 and 16/22: a report of two cases. Acta Paediatr 92:865-868.

Woo HY, Cho HJ, Kong SY, Kim HJ, Jeon HN, Kim EC, Park H, Kim YJ, Kim SH. (2003) Marker chromosomes in Korean patients: incidence, identification and diagnostic approach. J Korean Med Sci 18:773-778.

Wieland I, Muschke P, Volleth M, Ropke A, Pelz A-F, Stumm M, Wieacker P. (2006) High incidence of familial breast cancer segregates with constitutional t(11;22)(q23;q11). Genes, Chromosomes and Cancer 45:945-949.

Yosunkaya Fenerci E, Guven GS, Kuru D, Yilmaz S, Tarkan-Argüden Y, Cirakoglu A, Deviren A, Yüksel A, Hacihanefioğlu S. (2007) Supernumerary chromosome der(22)t(11;22): Emanuel syndrome associates with novel features. Genet Couns. 18(4):401-8.

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:331-337.