期刊论文详细信息
REPRODUCTIVE BIOMEDICINE ONLINE 卷:18
Meiotic segregation in spermatozoa of a 46,X,t(Y;10)(q11.2;p15.2) fertile translocation carrier
Article
Vialard, F.2  Molina-Gomes, D.2  Podbiol, A.3,4  Bailly, M.1  Hammoud, I.2  Dupont, J. M.3,4  de Mazancourt, P.2  Selva, J.2 
[1] CHI Poissy St Germain, Dept Obstet & Gynaecol, F-78303 Poissy, France
[2] Univ Versailles St Quentin, EA2493, Versailles, France
[3] Grp Hosp Cochin St Vincent Paul, APHP, Lab Cytogenet, Paris, France
[4] Univ Paris 05, Fac Med, F-75014 Paris, France
关键词: FISH;    meiotic segregation;    sperm FISH analysis;    Y-autosome translocation;    Yq;    10q translocation;   
DOI  :  10.1016/S1472-6483(10)60133-2
来源: Elsevier
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【 摘 要 】

Translocations involving gonosomes are frequent in azoospermic patients and sometimes in oligozoospermic ones. conditions that lead to request for assisted reproduction treatment. This study reports an unexpectedly fertile 49-year-old mail bearing a de-novo translocation 46,X,t(Y: 10)(q 11.2;q 15.2) associated with a high chromosomal risk for offspring. and referred for familial investigations after the diagnosis of an unbalanced translocation 46,XX,der(10)t(Y;10)(q11.2;p15.2) in his naturally conceived and mentally retarded daughter. Chromosome molecular investigation confirmed Y long-arm inheritance in the daughter and absence of the Yq deletion in the father. Semen analysis showed a normal sperm count associated with moderate asthenospermia and severe teratospermia. A total of 984 spermatozoa were analysed using fluorescence in-situ hybridization (FISH). Alternate segregation pattern was found in 50.31% of the spermatozoa studied. The frequencies of adjacent I. adjacent II, 3:1 segregation. and diploidy (or 4:0 segregation) were respectively 39.62, 1.63, 7.83, and 0.61%. No interchromosomal effect was observed. This patient is the first fertile man in whom the meiotic segregation pattern of a Y-autosome translocation has been analysed. The imbalance risk was close to those observed for reciprocal translocations, and emphasizes the value of FISH studies in males with a chromosomal translocation in order to provide them a personalized risk evaluation.

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