Partial trisomy 1(q42-->qter): a new case with a mild phenotype.

We report a female patient with a 46,XX,der(8)t(1;8)(q42.1;p23.3) karyotype who had a mild phenotype characterised by a few subtle dysmorphic features and mild developmental retardation, probably resulting from trisomy 1q42-->qter. The deletion on the short arm of the chromosome 8 appeared to be...

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Bibliografiske detaljer
Main Authors: Concolino, D, Cinti, R, Ferraro, L, Moricca, M T, Strisciuglio, P
Format: Artigo
Sprog:Inglês
Udgivet: 1998
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051194/
https://ncbi.nlm.nih.gov/pubmed/9475102
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