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A terminal deletion of the long arm of chromosome 4 [46,XX,del(4)(q33)] in an infant with phenotypic features of Williams syndrome.

A female infant with peripheral pulmonary artery stenosis, growth retardation, and developmental delay was noticed to have facial features consistent with a diagnosis of Williams syndrome. Chromosome analysis revealed a deletion of the terminal portion of the long arm of chromosome 4 (4q33----qter)....

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Detalhes bibliográficos
Main Authors: Jefferson, R D, Burn, J, Gaunt, K L, Hunter, S, Davison, E V
Formato: Artigo
Idioma:Inglês
Publicado em: 1986
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1049789/
https://ncbi.nlm.nih.gov/pubmed/3783627
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