DELETED YQ IN THE STERILE SON OF A MAN WITH A SATELLITED Y-CHROMOSOME (YQS)
DELETED YQ IN THE STERILE SON OF A MAN WITH A SATELLITED Y-CHROMOSOME (YQS)
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DOI：
10.1136/jmg.26.3.145
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发表时间：
1989-03-01
影响因子：
4
通讯作者：
MCBEATH, S
中科院分区：
文献类型：
--
作者：
CHANDLEY, AC;GOSDEN, JR;MCBEATH, S
1例Y染色体缺失的男性发生精子发生障碍和无精子症。异常Y染色体在核型中作为一个小的中部着丝粒标记出现。使用三种不同的Y特异性DNA探针的原位杂交显示，在Yq 11的缺失导致所有远端异染色质的损失。患者的不育表明位于Yq远端常染/异染界面的无精子因子（AZF）也丢失。显微涂片和风干的减数分裂标本显示精子发生严重受损，但罕见的细胞被认为是进展到后期前期阶段。睾丸组织学显示大部分生精小管完全透明化。先证者的父亲和一个有生育能力的兄弟在核型中显示出随体Y染色体（Yqs）。这个案例似乎是第一个报道的带有卫星Y染色体的父亲生下了一个携带不同Y染色体异常的儿子。从其他一个可能的推导进行了讨论。
Disturbed spermatogenesis and azoospermia are reported in a man with a deleted Y chromosome. The anomalous Y chromosome appears in the karyotype as a small metacentric marker. In situ hybridisation using three different Y specific DNA probes shows that deletion at Yq11 has resulted in loss of all distal heterochromatin. The sterility of the patient indicates loss also of the azoospermia factor (AZF) located at the Yq distal euchromatic/heterochromatic interface. Microspread and air dried meiotic preparations show a severe impairment of spermatogenesis but rare cells are seen to be progressing to the late prophase stage. The testicular histology shows most of the seminiferous tubules to be completely hyalinised. The father and a fertile brother of the proband show a satellited Y chromosome (Yqs) in their karyotypes. The case appears to be the first of its kind reported in which a father with a satellited Y chromosome has produced a son carrying a different Y chromosome anomaly. The possible derivation of the one from the other is discussed.