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A terminal deletion (14)(q31.1) in a child with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and mild mental retardation.

A female child with a terminal deletion on the long arm of chromosome 14, 46,XX,del(14)(q31.1), presented with microcephaly, narrow palate, gingival hypertrophy, protuberant ears, and a small haemangioma on the back. She was mildly mentally retarded. Only a few patients with a partial deletion of 14...

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Autors principals: Yen, F S, Podruch, P E, Weisskopf, B
Format: Artigo
Idioma:Inglês
Publicat: 1989
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC1015565/
https://ncbi.nlm.nih.gov/pubmed/2918542
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