Suppr超能文献

Triploidy syndrome. A report on two live-born (69, XXY) and one still-born (69, XXX) infants.

作者信息

Saadi A A, Juliar J F, Harm J, Brough A J, Perrin E V, Chen H

出版信息

Clin Genet. 1976 Jan;9(1):43-50. doi: 10.1111/j.1399-0004.1976.tb01548.x.

Abstract

Two live-born cases, 69,XXY and one stillbirth, 69,XXX are reported. Further evidence is presented to delineate the triploidy syndrome. Common external and internal features which characterize the triploidy syndrome are low-set ears, hypertelorism, colobomata, syndactyly, simian creases, microphallus, undescended testes, scrotal aplasia, anomalous heart and hypoplasia of kidneys and adrenals. The triploidy syndrome encompasses features found in trisomies 13, 18 and 21. We suggest that the abnormal development of the triploidy infants is the result of the mentioned trisomies and their subsequent effect on the remaining genome.

摘要

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验