单亲母系 X 四体综合征与父系非连接共同发生：48,XXXX 的起源调查。

IF 1 Q4 GENETICS & HEREDITY

Human Genome Variation Pub Date : 2024-08-16 DOI:10.1038/s41439-024-00289-6

Keiko Shimojima Yamamoto, Sakurako Yamamoto, Taichi Imaizumi, Satoko Kumada, Toshiyuki Yamamoto

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引用次数: 0

摘要

X 四体综合征或 48,XXXX 是一种罕见的性染色体非整倍体。我们对一名发育迟缓的女性患者的 X 四体综合征的父母来源进行了分析；所有四条 X 染色体均来自母亲，没有来自父亲的性染色体。这一发现表明，母系和父系非分离或多体拯救是罕见的偶发并存现象。为了进行比较，我们对与男性发育迟缓有关的 48,XXYY 的机制进行了分析。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX.

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Uniparental maternal tetrasomy X co-occurrence with paternal nondisjunction: investigation of the origin of 48,XXXX.

Tetrasomy X or 48,XXXX is a rare sex chromosome aneuploidy. The parental origin of tetrasomy X in a female patient with developmental delay was analyzed; all four X chromosomes were derived from the mother, and there were no paternally derived sex chromosomes. This finding indicates a rare incidental co-occurrence of maternal and paternal nondisjunction or polysomy rescue. The mechanism of 48,XXYY, which is related to developmental delay in males, was analyzed for comparison.

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来源期刊

Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

2.30

自引率

0.00%

发文量

审稿时长

13 weeks