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Pallister-Killian syndrome: additional manifestations of cleft palate and sacral appendage.

We report a case of Pallister-Killian syndrome in a 28 week gestation infant. In addition to the characteristic phenotype, this patient had a cleft palate, diaphragmatic hernia, sacral appendage, and imperforate anus. The lymphocyte karyotype showed 96% 46,XX/4% 47,XX+i (12p) and the fibroblast kary...

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Detalhes bibliográficos
Main Authors: McLeod, D R, Wesselman, L R, Hoar, D I
Formato: Artigo
Idioma:Inglês
Publicado em: 1991
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016985/
https://ncbi.nlm.nih.gov/pubmed/1920372
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