Meiotic segregation of X-autosome translocation in two carriers and implications for assisted reproduction

REPRODUCTIVE BIOMEDICINE ONLINE

卷:18

Article

Perrin, Aurore^1,2  Vialard, Francois^3,4  Douet-Guilbert, Nathalie^1,2,5  Gomes, Denise Molina^3,4  Guthauser, Bruno⁶  De Braekeleer, Marc^1,2,5  Selva, Jacqueline^3,4  Morel, Frederic^1,2,5 

[1] Univ Bretagne Occidentale, Lab Histol Embryol & Cytogenet, Fac Med & Sci Sante, Brest, France

[2] INSERM, U613, Brest, France

[3] CHI Poissy St Germain, Serv Histol Embryol Cytogenet Biol Reprod & Genet, Poissy, France

[4] Univ Versailles St Quentin Yvelines, EA2493, Versailles, France

[5] CHU Brest, Hop Morvan, Serv Cytogenet Cytol & Biol Reprod, Brest, France

[6] CHR Dreux, Serv Biol & Med Reprod, Dreux, France

关键词: FISH;    genetic counselling;    meiotic segregation;    spermatozoa;    X-autosome translocation;   

DOI  :  10.1016/S1472-6483(10)60036-3

来源: Elsevier

【 摘 要 】

The aim of this study was to analyse and compare the meiotic segregation of X-autosome translocation in two male carriers and to discuss couple-specific treatment modality before intracytoplasmic sperm injection (ICSI). Meiotic segregation was analysed by fluorescence in-situ hybridization (FISH) in spermatozoa of two men who were carriers of a X-autosome translocation: 46,Y,t(X;2)(p21;p25.3) (patient 1) and 46,Y,t(X;18)(q11;p11.1) (patient 2). The results indicated a majority of unbalanced spermatozoa (62.05%) for patient 1, but normal or balanced spermatozoa (54.36%) for patient 2. Moreover, the unbalanced gametes resulted from adjacent 1, adjacent 11 and 3:1 searegation. in decreasing frequencies, for patient 1 but from 3:1, adjacent I, adjacent II segregation for patient 2. The results of the meiotic segregation analysis had different treatment implications for assisted reproduction. Couple 1 were advised against ICSI, due to the results of the meiotic segregation in spermatozoa from patient 1 and the age of his wife. For couple 2, the clinic viewed favourably ail attempt with ICSI followed by conventional prenatal diagnosis. A 46,XY child was born without malformations.

【 授权许可】

Free