Literature DB >> 1514417

Liveborn trisomy 22: report of one case.

S F Lean1, S P Lin, E Y Shen, M Y Ho, S Y Yang.   

Abstract

A case of trisomy 22 liveborn female baby with multiple congenital anomalies is described. Physical manifestations included failure to thrive, hypotonia, pre-auricular sinus, low set ears, hypertelorism, posterior low hair line, micrognathia, cleft palate, congenital heart disease, imperforated anus with anovulvar fistula, contracted pelvis and bilateral rocker-bottom feet. The infant died at two months of age. Cases of trisomy 22 usually present with many severe malformations, and they rarely survive to term. A review of the literature is presented to delineate this chromosome disorder.

Entities:  

Mesh:

Year:  1992        PMID: 1514417

Source DB:  PubMed          Journal:  Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi        ISSN: 0001-6578


  1 in total

1.  Live-born trisomy 22: patient report and review.

Authors:  T Heinrich; I Nanda; M Rehn; U Zollner; E Frieauff; J Wirbelauer; T Grimm; M Schmid
Journal:  Mol Syndromol       Date:  2013-01-11
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.