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....

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Vydáno v:J Med Genet
Hlavní autoři: Driscoll, D A, Salvin, J, Sellinger, B, Budarf, M L, McDonald-McGinn, D M, Zackai, E H, Emanuel, B S
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Publishing Group 1993
Témata:
Research Article
On-line přístup: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
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