Llwytho...

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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Schinzel, A, Binkert, F, Lillington, D M, Sands, M, Stocks, R J, Lindenbaum, R H, Matthews, H, Sheridan, H
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 1991
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016859/
https://ncbi.nlm.nih.gov/pubmed/1865477
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