Aneuploidy 12 in a Robertsonian (13;14) carrier: Case report

Human Reproduction

Volumn 20, Issue 5, 2005, Pages 1256-1260

  Gutiérrez Mateo, Cristina ^a   Gadea, L ^b   Benet, J ^a   Wells, D ^c   Munne S ^b,c   Navarro, Joaquima ^a  

^a UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^b Department of Reprogenetics ^*  (United States)

^c SAINT BARNABAS MEDICAL CENTER   (United States)

Author keywords

CGH; First polar body; Oocyte; SKY; Translocation

Indexed keywords

ADULT; ANEUPLOIDY; ARTICLE; CASE REPORT; CHROMOSOME 12; CHROMOSOME SEGREGATION; CHROMOSOME TRANSLOCATION 13; CHROMOSOME TRANSLOCATION 14; COMPARATIVE GENOMIC HYBRIDIZATION; DIAGNOSTIC VALUE; EMBRYO; FEMALE; FEMALE INFERTILITY; FERTILIZATION IN VITRO; HAPLOIDY; HETEROZYGOTE; HUMAN; KARYOTYPING; METAPHASE; NUMERICAL CHROMOSOME ABERRATION; OOCYTE; PRENATAL DIAGNOSIS; PRENATAL SCREENING; ROBERTSONIAN CHROMOSOME TRANSLOCATION;

EID: 20344397120     PISSN: 02681161     EISSN: None     Source Type: Journal    
DOI: 10.1093/humrep/deh751     Document Type: Article

References (23)

1. Baart EB, Van Opstal D, Los FJ, Fauser BCJM and Martini E (2004) Fluorescence in situ hybridization analysis of two blastomeres from day 3 frozen-thawed embryos followed by analysis of the remaining embryo on day 5. Hum Reprod 19,685-693.
2. Blanco J, Egozcue J, Clusellas N and Vidal F (1998) FISH on sperm heads allows the analysis of chromosome segregation and inter-chromosomal effects in carriers of structural rearrangements: results in a translocation carrier, t(5;8)(q33;q13). Cytogenet Cell Genet 83,275-280.
3. Cupisti S, Conn CM, Fragouli E, Whalley K, Mills JA, Faed MJW and Delhanty JDA (2003) Sequential FISH analysis of oocytes and polar bodies reveals aneuploidy mechanisms. Prenat Diagn 23,663-668.
4. Durban M, Benet J, Boada M, Fernández E, Calafell JM, Lailla JM, Sánchez-García JF, Pujol A, Egozcue J et al. (2001) PGD in female carriers of balanced Robertsonian and reciprocal translocations by first polar body analysis. Hum Reprod Update 7,591-602.
5. Escudero T, Michael L, Carrel D, Blanco J and Munné S (2000) Analysis of chromosome abnormalities in sperm and embryos from two 45, XY, t(13;14)(q10;q10) carriers. Prenat Diagn 20,599-602.
6. Estop AM, Cieply K, Munné S, Surti U, Wakim A and Feingold E (2000) Is there an interchromosomal effect in reciprocal translocation carriers? Sperm FISH studies. Hum Genet 106,517-524.
7. Gianaroli L, Magli C, Ferraretti AP, Munné S, Balicchia B, Escudero T and Crippa A (2002) Possible interchromosomal effect in embryos generated by gametes from translocation carriers. Hum Reprod 17,3201-3207.
8. Gutierrez-Mateo C, Wells D, Benet J, Sánchez-García JF, Bermúdez MG, Belil I, Egozcue J, Munné S and Navarro J (2004) Reliability of comparative genomic hybridization to detect chromosome abnormalities in first polar bodies and metaphase II oocytes. Hum Reprod 19,2118-2125.
9. Los FJ, Van Opstal D and Van den Berg C (2004) The development of cytogenetically normal, abnormal and mosaic embryos: a theoretical model. Hum Reprod Update 10,79-94.
10. Márquez C, Cohen J and Munné S (1998) Chromosome identification in human oocytes and polar bodies by spectral karyotyping. Cytogenet Cell Genet 81,254-258.
11. Munné S (2002) Preimplantation genetic diagnosis of numerical and structural chromosome abnormalities. Reprod Biomed Online 4,183-196.
12. Munné S, Dailey T, Finkelstein M and Weier H (1996) Reduction in signal overlap results in increased FISH efficiency: implications for preimplantation genetic diagnosis. J Assist Reprod Genet 13,149-156.
13. Munné S, Morrison L, Fung J, Márquez C, Weier H and Bahçe M (1998a) Spontaneous abortions are reduced after preconception diagnosis of translocations. J Assist Reprod Genet 15,290-296.
14. Munné S, Scott R, Sable D and Cohen J (1998b) First pregnancies after pre-conception diagnosis of translocations of maternal origin. Fertil Steril 69,675-681.
15. Oliver-Bonet M, Navarro J, Carrera M, Egozcue J and Benet J (2002) Aneuploid and unbalanced sperm in two translocation carriers: evaluation of the genetic risk. Mol Hum Reprod 8,958-963.
16. Pellestor F, Imbert I, Andréo B and Lefort G (2001) Study of the occurrence of interchromosomal effect in spermatozoa of chromosomal rearrangement carriers by fluorescence in-situ hybridization and primed in-situ labelling techniques. Hum Reprod 16,1155-1164.
17. Pujol A, Boiso I, Benet J, Veiga A, Durban M, Campillo M, Egozcue J and Navarro J (2003a) Analysis of nine chromosome probes in 1st polar bodies and metaphase II oocytes for the detection of aneuploidies. Eur J Hum Genet 11,325-336.
18. Pujol A, Durban M, Benet J, Boiso I, Calafell JM, Egozcue J and Navarro J (2003b) Multiple aneuploidies in the oocytes of balanced translocation carriers: a preimplantation genetic diagnosis study using first polar body. Reproduction 126,701-711.
19. Sandalinas M, Márquez C and Munné S (2002) Spectral karyotyping of fresh, non-inseminated oocytes. Mol Hum Reprod 8,580-585.
20. Tarkowski A (1966) An air drying method for chromosome preparation from mouse eggs. Cytogenetics 5,394-400.
21. Voullaire L, Wilton L, Slater H and Williamson R (1999) Detection of aneuploidy in single cells using comparative genomic hybridization. Prenat Diagn 19,846-851.
22. Wells D, Sherlock JK, Handyside AH and Delhanty JDA (1999) Detailed chromosomal and molecular genetic analysis of single cells by whole genome amplification and comparative genomic hybridisation. Nucleic Acids Res 27,1214-1218.
23. Wells D, Escudero T, Levy B, Hirschhorn K, Delhanty JDA and Munné S (2002) First clinical application of comparative genomic hybridization and polar body testing for preimplantation genetic diagnosis of aneuploidy. Fertil Steril 78,543-549.