Interstitial deletion of the long arm of chromosome 18, del(18)(q12.2q21.1): a report of three cases of an autosomal deletion with a mild phenotype.

We describe three unrelated patients with apparently identical interstitial deletions of the segment (18) (q12.2q21.1). They were a short and markedly mentally retarded 5 year old girl, a macrocephalic and obese 2 1/2 year old boy with moderate mental retardation, and a macrocephalic, severely menta...

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Detalles Bibliográficos
Publicado en:J Med Genet
Main Authors: Schinzel, A, Binkert, F, Lillington, D M, Sands, M, Stocks, R J, Lindenbaum, R H, Matthews, H, Sheridan, H
Formato: Artigo
Idioma:Inglês
Publicado: BMJ Publishing Group 1991
Assuntos:
Research Article
Acceso en liña:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC1016859/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/1865477/
https://ncbi.nlm.nih.govhttps://doi.org/10.1136/jmg.28.5.352
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