Literature DB >> 11666000

Hemifacial microsomia in two patients further supporting chromosomal mosaicism as a causative factor.

T J de Ravel1, E Legius, H Brems, R Van Hoestenberghe, P H Gillis, J P Fryns.   

Abstract

We report two cases with hemifacial microsomia with body asymmetry associated with mosaic trisomies. The child with mosaic trisomy 9 had skin pigmentary changes. In the boy with mosaic trisomy 22, the extra chromosome 22 originated from a maternal meiosis I error.

Entities:  

Mesh:

Year:  2001        PMID: 11666000     DOI: 10.1097/00019605-200110000-00005

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  1 in total

1.  OTX2 duplication is implicated in hemifacial microsomia.

Authors:  Dina Zielinski; Barak Markus; Mona Sheikh; Melissa Gymrek; Clement Chu; Marta Zaks; Balaji Srinivasan; Jodi D Hoffman; Dror Aizenbud; Yaniv Erlich
Journal:  PLoS One       Date:  2014-05-09       Impact factor: 3.240

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.