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单卵双胞胎姐妹中的45,X特纳综合征。

45,X Turner's syndrome in monozygotic twin sisters.

作者信息

Pescia G, Ferrier P E, Wyss-Hutin D, Klein D

出版信息

J Med Genet. 1975 Dec;12(4):390-6. doi: 10.1136/jmg.12.4.390.

Abstract

A 7-year-old girl was admitted to the hospital for anaemia, secondary to intestinal blood los (melaena). She was found to have 45,X Turner's syndrome. Her identical twin sister also had Turner's syndrome with a 45,X chromosome complement. According to various criteria the probability of monozygosity was 0.9905. Although the incidence of twinning is greater than usual in families of patients with Turner's syndrome, affected cases have only been observed in twin sisters on six occasions. It seems therefore that the 45,X chromosome complement itself is not a factor predisposing to twinning, but that in some families, a factor is at play, which cuases either twinning or the 45,X aneuploidy, or both.

摘要

一名7岁女孩因肠道失血(黑便)继发贫血入院。她被诊断为45,X特纳综合征。她的同卵双胞胎姐姐也患有特纳综合征,染色体组成为45,X。根据各种标准,单合子概率为0.9905。虽然特纳综合征患者家庭中双胞胎的发生率高于正常情况,但仅在六例中观察到双胞胎姐妹均受影响。因此,45,X染色体组成本身似乎不是导致双胞胎的因素,而是在某些家庭中,存在一个因素,它要么导致双胞胎,要么导致45,X非整倍体,或者两者皆有。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/54b0/1013318/0475d7a6bed3/jmedgene00317-0075-a.jpg

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