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人类易位杂合子中出现具有不同染色体畸变的连续自然流产。

Successive spontaneous abortions with diverse chromosomal aberrations in human translocation heterozygote.

作者信息

Kohn G, Ornoy A, Ben-Tsur Z, Sadovsky E, Cohen M M

出版信息

Teratology. 1975 Dec;12(3):283-9. doi: 10.1002/tera.1420120310.

Abstract

A patient who had 3 first-trimester spontaneous abortions (blighted ova) was found to be carrying a balanced 13/14 Robertsonian translocation. In the 2 cases cytogenetically analyzed, different chromosomal aberration were found (trisomy 16 and supernumerary D elements). Histologic examination of the placentas of all 3 abortions revealed hypovascular or avascular villi, hydropic degeneration, and occasional atypical stromal (Hofbauer-like) cells. In 2 cases the decidua was examined by light microscopy and was diffusely inflamed with a plasmolymphocytic infiltrate. The relation of the maternal translocation to the repeated abortions with chromosome anomalies is discussed.

摘要

一名有3次孕早期自然流产(空孕囊)的患者被发现携带平衡的13/14罗伯逊易位。在2例进行细胞遗传学分析的病例中,发现了不同的染色体畸变(16三体和额外的D组染色体)。对所有3次流产的胎盘进行组织学检查,发现绒毛血管减少或无血管、水样变性,偶尔可见非典型间质(霍夫鲍尔样)细胞。2例蜕膜经光学显微镜检查,可见弥漫性炎症伴浆细胞淋巴细胞浸润。讨论了母亲的易位与反复流产伴染色体异常之间的关系。

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