通过胰蛋白酶-吉姆萨染色确认22三体。

Confirmation of trisomy 22 by trypsin-giemsa staining.

作者信息

Begleiter M L, Kulkarni P, Harris D J

出版信息

J Med Genet. 1976 Dec;13(6):517-20. doi: 10.1136/jmg.13.6.517.

DOI:10.1136/jmg.13.6.517

PMID:138743

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1013483/

Abstract

A small-for-dates male infant with mental retardation, microcephaly, malformed ears, preauricular sinuses, epicanthal folds, micrognathia, congenital heart diseases, micropenis, and micropolygyria of the parietal and occipital lobes of the cerebral cortex was shown to have a 47,XY,+22 karyotype by trypsin-giemsa banding. Review of reported cases confirms that there may be distinctive trisomy 22 syndrome.

摘要

一名足月小样儿男性婴儿，患有智力发育迟缓、小头畸形、耳部畸形、耳前窦、内眦赘皮、小颌畸形、先天性心脏病、小阴茎以及大脑皮层顶叶和枕叶多小脑回畸形，经胰蛋白酶 - 吉姆萨染色显带分析显示其核型为47,XY,+22。对已报道病例的回顾证实，可能存在独特的22三体综合征。