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产前检测到7号染色体短臂间质性缺失。

Interstitial deletion of chromosome 7p detected antenatally.

作者信息

Marks K, Hill L, Chitham R G, Whitehouse W L

出版信息

J Med Genet. 1985 Aug;22(4):316-8. doi: 10.1136/jmg.22.4.316.

Abstract

An interstitial deletion in chromosome 7(p13p15) detected in amniotic fluid cells is presented. After termination, the fetus was noted to have an asymmetrical skull, low set ears, a flattened nose, bifid thumbs and right big toe, pyloric adenomyosis, hypospadias, and simian creases. A brief comparison is made with previously reported cases involving deletions of 7p, including those associated with craniosynostosis.

摘要

本文报告了在羊水细胞中检测到的7号染色体(p13p15)间质性缺失。终止妊娠后,发现胎儿有不对称颅骨、低位耳、扁平鼻、双拇指和右大脚趾、幽门腺肌病、尿道下裂和猿线。本文还与先前报道的涉及7p缺失的病例进行了简要比较,包括那些与颅缝早闭相关的病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4b74/1049459/f84ffe44c0ad/jmedgene00096-0077-a.jpg

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