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A case of duplication of 13q32-->qter and deletion of 18p11.32-->pter with mild phenotype: Patau syndrome and duplications of 13q revisited.

A mild clinical phenotype is described in a patient with duplication of 13q32-->qter and a small deletion of 18p11.32-->pter. The 8 year old white male presented with psychomotor retardation, tethered cord, soft, fleshy ears, and normal facial features except for thin lips. The karyotype was f...

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Autores principales: Helali, N, Iafolla, A K, Kahler, S G, Qumsiyeh, M B
Formato: Artigo
Lenguaje:Inglês
Publicado: 1996
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050671/
https://ncbi.nlm.nih.gov/pubmed/8818949
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