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Partial monosomy 12p13.1----13.3.

We describe a 27 month old female child with partial monosomy for the short arm of chromosome 12: 46,XX,del(12)(p13.1----p13.3). She differs from the eight cases described by others, in that she is less severely affected. Her main clinical features are developmental delay, protruding tongue, strabis...

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Detalhes bibliográficos
Main Authors: Romain, D R, Goldsmith, J, Columbano-Green, L M, Chapman, C J, Smythe, R H, Parfitt, R G
Formato: Artigo
Idioma:Inglês
Publicado em: 1987
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050154/
https://ncbi.nlm.nih.gov/pubmed/2441059
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