Literature DB >> 8418659

Interstitial deletion of chromosome 2 region in a malformed infant.

A R Melnyk1, J Muraskas.   

Abstract

We describe an infant with a lumbar meningomyelocele and other congenital anomalies and a de novo deletion of 2q36 with a non-mosaic karyotype 46,XX,del(2)(q36).

Entities:  

Mesh：

Year:  1993        PMID： 8418659     DOI： 10.1002/ajmg.1320450114

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  2 in total

1.  The human vigilin gene: identification, chromosomal localization and expression pattern.

Authors:  G Plenz; S Kügler; S Schnittger; H Rieder; C Fonatsch; P K Müller
Journal:  Hum Genet       Date:  1994-05       Impact factor: 4.132

2.  EPHA4 haploinsufficiency is responsible for the short stature of a patient with 2q35-q36.2 deletion and Waardenburg syndrome.

Authors:  Chuan Li; Rongyu Chen; Xin Fan; Jingsi Luo; Jiale Qian; Jin Wang; Bobo Xie; Yiping Shen; Shaoke Chen
Journal:  BMC Med Genet       Date:  2015-04-11       Impact factor: 2.103
  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.