Prenatal diagnosis of two different unbalanced forms of an inherited (Y;12) translocation

American Journal of Medical Genetics, Part A

Volumn 149, Issue 12, 2009, Pages 2820-2823

  Mademont Soler, Irene ^a   Morales, Carme ^a,b   Madrigal, Irene ^b   Margarit, Ester ^a,b,c   Bruguera, Jordi ^a   Clusellas, Núria ^a,b   Martínez, José M ^a,c   Borrell, Antoni ^a,b,c   Sánchez, Aurora ^a,b,c   Soler, Anna ^a,b,c  

^a HOSPITAL CLÍNIC   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c INSTITUT D INVESTIGACIONS BIOMÈDIQUES AUGUST PI I SUNYER IDIBAPS   (Spain)

Author keywords

12qter deletion; 12qter duplication; Autosome translocation; Cardiopathy; Congenital malformations; Genotype phenotype correlation; Prenatal diagnosis; Y

Indexed keywords

ADULT; AMNIOCENTESIS; ANAMNESIS; ARTICLE; CASE REPORT; CHROMOSOME 12; CHROMOSOME ANALYSIS; CHROMOSOME TRANSLOCATION; CONGENITAL HEART MALFORMATION; CORRELATION ANALYSIS; ECHOGRAPHY; FEMALE; FETUS; FLUORESCENCE IN SITU HYBRIDIZATION; GENOTYPE; HUMAN; KARYOTYPE; MENTAL DEFICIENCY; MONOSOMY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; TRISOMY; Y CHROMOSOME;

CHROMOSOMES, HUMAN, PAIR 12; CHROMOSOMES, HUMAN, Y; FEMALE; FETUS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INHERITANCE PATTERNS; KARYOTYPING; MALE; PREGNANCY; PRENATAL DIAGNOSIS; TRANSLOCATION, GENETIC;

EID: 71949114199     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33105     Document Type: Article

References (26)

1. Alves C, Carvalho F, Cremades N, Sousa M, Barros A. 2002. Unique (Y;13) translocation in a male with oligozoospermia: Cytogenetic and molecular studies. Eur J Hum Genet 10:467-474. (Pubitemid 34905816)
2. Brisset S, Izard V, Misrahi M, Aboura A, Madoux S, Ferlicot S, Schoevaert D, Soufir JC, Frydman R, Tachdjian G. 2005. Cytogenetic, molecular and testicular tissue studies in an infertile 45,X male carrying an unbalanced (Y;22) translocation: Case report. Hum Reprod 20:2168-2172. (Pubitemid 41418501)
3. Chen Y, Chen G, Lian Y, Gao X, Huang J, Qiao J. 2007. A normal birth following preimplantation genetic diagnosis by FISH determination in the carriers of der(15)t(Y;15)(Yq12;15p11) translocations: Two case reports. J Assist Reprod Genet 24:483-488. (Pubitemid 350029537)
4. Delobel B, Djlelati R, Gabriel-Robez O, Croquette MF, Rousseaux-Prevost R, Rousseaux J, Rigot JM, Rumpler Y. 1998. Y-autosome translocation and infertility: Usefulness of molecular, cytogenetic and meiotic studies. Hum Genet 102:98-102. (Pubitemid 28185268)
5. Flint J, Wilkie AO, Buckle VJ, Winter RM, Holland AJ, McDermid HE. 1995. The detection of subtelomeric chromosomal rearrangements in idiopathic mental retardation. Nat Genet 9:132-140.
6. Gardner RJ, Sutherland GR. 2004. Chromosome abnormalities and genetic counselling. New York: Oxford University Press. pp 264-293.
7. Giltay JC, Tiemessen CH, van Inzen WG, Scheres JM. 1998. One normal child and a chromosomally balanced/normal twin after intracytoplasmic sperm injection in a male with a de-novo t(Y;16) translocation. Hum Reprod 13:2745-2747.
8. Hsu LY. 1994. Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases. Am J Med Genet 53:108-140.
9. Ireland JW, Jalal SM, McGrann PS, Lindor NM. 2004. Nonmosaic smallest duplication of 12q24.31-qter: The first reported case. Am J Med Genet Part A 128A:305-310.
10. Kü H, Röttger S, Heilbronner H, Enders H, Schempp W.2001. Loss of the Y chromosomal PAR2-region in four familial cases of satellited Y chromosomes (Yqs). Chromosome Res 9:215-222. (Pubitemid 32299567)
11. Masuno M, Fukushima Y, Sugio Y, Kuroki Y. 1987. Partial distal 12q trisomy with arachnoid cyst. Jinrui Idengaku Zasshi 32:39-43. (Pubitemid 17115322)
12. Morales C, Soler A, Bruguera J, Madrigal I, Alsius M, Obon M, Margarit E, Sánchez A. 2007. Pseudodicentric 22;Y translocation transmitted through four generations of a large family without phenotypic repercussion. Cytogenet Genome Res 116:319-323. (Pubitemid 46595003)
13. Nielsen J, Rasmussen K. 1976. Y/autosomal translocations. Clin Genet 9:609-617.
14. Niyazov DM, Nawaz Z, Justice AN, Toriello HV, Martin CL, Adam MP. 2007. Genotype/phenotype correlations in two patients with 12q sub-telomere deletions. Am J Med Genet Part A 143A:2700-2705. (Pubitemid 350076775)
15. Pinho MJ, Neves R, Costa P, Ferrás C, Sousa M, Alves C, Almeida C, Fernandes S, Silva J, Ferrás L, Barros A. 2005. Unique t(Y;1)(q12;q12) reciprocal translocation with loss of the heterochromatic region of chromosome 1 in a male with azoospermia due to meiotic arrest: A case report. Hum Reprod 20:689-696. (Pubitemid 40425495)
16. Queralt R, Madrigal I, Vallecillos MA, Morales C, Ballescá JL, Oliva R, Soler A, Sánchez A, Margarit E. 2008. Atypical XX male with the SRY gene located at the long arm of chromosome 1 and 1qter microdeletion. Am J Med Genet Part A 146A:1335-1340. (Pubitemid 351631334)
17. Ruiter EM, Koolen DA, Kleefstra T, Nillesen WM, Pfundt R, de Leeuw N, Hamel BC, Brunner HG, Sistermans EA, de Vries BB. 2007. Pure subtelomeric microduplications as a cause of mental retardation. Clin Genet 72:362-368. (Pubitemid 47394229)
18. Shinohara M, Minowada S, Aso Y, Yamada K, Nakahori Y, Tamura T, Nakagome Y. 1991. A t(Y;15) translocation with a deletion of the proximal Yq in a boy with mixed gonadal dysgenesis. Hum Genet 86:442-444.
19. Speleman F, Van Roy N, De Vos E, Hilliker C, Suijkerbuijk RF, Leroy JG. 1993. Molecular cytogenetic analysis of a familial pericentric inversion of chromosome 12. Clin Genet 44:156-163. (Pubitemid 23294043)
20. Stalvey JR, Erickson RP, Dasouki M, Glover T, Shokir M. 1988. Clarification of chromosomal abnormalities associated with sexual ambiguity by studies with Y-chromosomal DNA sequences. Cytogenet Cell Genet 47:140-143. (Pubitemid 18186142)
21. Tajara EH, Varella-GarciaM, Gusson AC. 1985. Partial trisomy 12q24.31→qter. J Med Genet 22:73-76.
22. Tozaki-Saitoh H, Koizumi S, Sato Y, Tsuda M, Nagao T, Inoue K. 2006. Retinoic acids increase P2X2 receptor expression through the 5′-flanking region of P2rx2 gene in rat phaeochromocytoma PC-12 cells. Mol Pharmacol 70:319-328. (Pubitemid 43920822)
23. van Karnebeek CD, Koevoets C, Sluijter S, Bijlsma EK, Smeets DF, Redeker EJ, Hennekam RC, Hoovers JM. 2002. Prospective screening for sub-telomeric rearrangements in children with mental retardation of unknown aetiology: The Amsterdam experience. J Med Genet 39:546-553. (Pubitemid 34864556)
24. Vogt PH, Edelmann A, Kirsch S, Henegariu O, Hirschmann P, Kiesewetter F, Köhn FM, Schill WB, Farah S, Ramos C, Hartmann M, Hartschuh W, Meschede D, Behre HM, Castel A, Nieschlag E, Weidner W, Gröne HJ, Jung A, Engel W, Haidl G. 1996. Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11. Hum Mol Genet 5:933-943. (Pubitemid 26232272)
25. Wilkie AO. 1993. Detection of cryptic chromosomal abnormalities in unexplained mental retardation: A general strategy using hypervariable subtelomeric DNA polymorphisms. Am J Hum Genet 53:688-701. (Pubitemid 23304142)
26. Wimmer R, Schempp W, Gopinath PM, Nagarajappa CS, Chandra N, Palaniappan I,Hansmann I. 2006.Afamily case of fertile human45,X,psu dic(15;Y) males. Cytogenet Genome Res 115:94-98. (Pubitemid 44401357)