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A new case of partial trisomy 19q (q13.2-->qter) owing to an unusual maternal translocation.

A new case of trisomy 19q13.2-->qter is described in a male child which was caused by a maternal balanced translocation (13;19)(p13;q13.2). The major clinical features detected in the patient included the following: facial dysmorphism, bilateral coloboma, narrow and hypoplastic nails, cardiac mal...

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Detalhes bibliográficos
Main Authors: Valerio, D, Lavorgna, F, Scalona, M, Conte, A
Formato: Artigo
Idioma:Inglês
Publicado em: 1993
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016504/
https://ncbi.nlm.nih.gov/pubmed/8411060
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