Smith A, Conway A, Robson L
Cytogenetics Unit, Children's Hospital, Camperdown, NSW.
Med J Aust. 1994 May 2;160(9):545, 548-9, 552.
To characterise the structurally abnormal Y chromosomes present in two infertile men by means of the molecular technique of fluorescence in-situ hybridisation (FISH).
Both men were phenotypically normal and had azoospermia. In Case 1 the karyotype with routine cytogenetics was 46,XX; in Case 2 it was complex, with 3 cell lines--45,X/46,X,i(Yp)/46,X,+?del(Y)(q11). We used probes from the Y chromosome and FISH to clarify these karyotypes.
In Case 1 a translocation of Y chromosome to the X chromosome was identified with FISH--t(X;Y). In Case 2, an isochromosome of the short arm of the Y chromosome was confirmed in one cell line, and another cell line was shown to contain a small Y chromosome with heterochromatic deletion. These findings explained the underlying pathogenesis in both cases.
Molecular investigation with FISH should become part of the routine investigation of infertile men with an abnormal Y chromosome.
通过荧光原位杂交（FISH）分子技术对两名不育男性中存在的结构异常Y染色体进行特征分析。
两名男性表型均正常，均为无精子症。病例1常规细胞遗传学核型为46,XX；病例2较为复杂，有3种细胞系——45,X/46,X,i(Yp)/46,X,+?del(Y)(q11)。我们使用Y染色体探针和FISH来明确这些核型。
病例1通过FISH鉴定出Y染色体易位至X染色体——t(X;Y)。病例2中，在一个细胞系中证实存在Y染色体短臂等臂染色体，另一个细胞系显示含有一条带有异染色质缺失的小Y染色体。这些发现解释了两例患者潜在的发病机制。
对Y染色体异常的不育男性进行常规检查时，应将FISH分子检测纳入其中。
