DETECTION OF T(X-Y) IN 2 XX-MALES USING FLUORESCENT IN-SITU HYBRIDIZATION

被引：0
|
作者：
TAIAR, N [1 ]
QUMSIYEH, MB [1 ]
CROTEAU, S [1 ]
ROLLET, J [1 ]
BENKHALIFA, M [1 ]
机构：
[1] DUKE UNIV,MED CTR,CYTOGENET LAB,DURHAM,NC 27707
来源：
ANNALES DE GENETIQUE | 1995年 / 38卷 / 02期
关键词：
STERILITY; FERTILITY; XX MALE; CYTOGENETIC; IN SITU HYBRIDIZATION;
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
Males with a 46,XX karyotype generally have Y chromosomal material translocated to the pseudoautosomal region of the X chromosome. We have delineated two such cases using two color fluorescent in situ hybridization with probes from the short arm (DYZ2), centromere (DYZ3), and long arm (DYZ1) of the Y chromosome and a centromeric probes for the X chromosome (DXZ1). Using these techniques, the two patients are identified as having the karyotype 46,X,der(X)t(X;Y) (p22;p11) and a phenotype consistant with this translocation. Azoospermia in these patients is explained by the absence of Y long arm material including the recently identified candidate gene family for spermatogenesis.
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页码：102 / 105
页数：4
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