Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.

Deletions of chromosome 22q11 have been seen in association with DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS). In the present study, we analysed samples from 76 patients referred with a diagnosis of either DGS or VCFS to determine the prevalence of 22q11 deletions in these disorders....

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:J Med Genet
Auteurs principaux: Driscoll, D A, Salvin, J, Sellinger, B, Budarf, M L, McDonald-McGinn, D M, Zackai, E H, Emanuel, B S
Format: Artigo
Langue:Inglês
Publié: BMJ Publishing Group 1993
Sujets:
Research Article
Accès en ligne:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016560/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/8230155/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.30.10.813
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires