Literature DB >> 16760731

Interstitial deletion of 13q22-->q31: case report and review of the literature.

José A Morales1, Adriana P Mendizabal, Ana I Vásquez, Luis E Figuera, Juan R González-García.   

Abstract

In the present study we describe a patient with characteristic brachydactily, developmental delay and interstitial del 13q22-->q31. After the review of the literature, few cases sharing similar chromosomal deletions were found and they displayed little resemblance with our patient. We discuss the phenotype correlation among the deleted regions in such cases.

Entities:  

Mesh:

Year:  2006        PMID: 16760731     DOI: 10.1097/01.mcd.0000204990.46743.7b

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


  1 in total

1.  Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans.

Authors:  Loïc de Pontual; Evelyn Yao; Patrick Callier; Laurence Faivre; Valérie Drouin; Sandra Cariou; Arie Van Haeringen; David Geneviève; Alice Goldenberg; Myriam Oufadem; Sylvie Manouvrier; Arnold Munnich; Joana Alves Vidigal; Michel Vekemans; Stanislas Lyonnet; Alexandra Henrion-Caude; Andrea Ventura; Jeanne Amiel
Journal:  Nat Genet       Date:  2011-09-04       Impact factor: 38.330

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.