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.

引用

页码：102 / 105

页数：4

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