一名不育男性中的一种独特的Y/Y易位。

A unique Y/Y translocation in an infertile male.

作者信息

Butler M G, Sanger W G, Walzak M P

出版信息

Cytogenet Cell Genet. 1981;31(3):175-7. doi: 10.1159/000131643.

DOI:10.1159/000131643

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6706851/

Abstract

A monocentric and submetacentric Y/Y translocation without evidence of mosaicism was observed in a male with tall stature and azoospermia. Chromosome measurements of the abnormal Y of this patient and the normal Y of his father were undertaken to determine more precisely the chromosome break points in this translocation. The measurements failed to show a definite loss of chromatin from the original short arm of the proband's Y chromosome. The azoospermia and infertility in our patient, in contrast to his father, suggest that infertility may be associated with this specific Y/Y translocation in human males.

摘要

在一名身材高大且无精子症的男性中观察到一个单中心和亚中着丝粒的Y/Y易位，且无嵌合体证据。对该患者异常Y染色体和其父亲正常Y染色体进行了染色体测量，以更精确地确定此次易位中的染色体断点。测量结果未能显示先证者Y染色体原始短臂上有明确的染色质丢失。与他的父亲相比，我们患者的无精子症和不育表明，不育可能与人类男性中这种特定的Y/Y易位有关。

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