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Duplication-deletion with partial trisomy lq and partial monosomy 3p resulting from a maternal reciprocal translocation rcp (1;3) (q32;p25).

A mother with a translocation rcp (1;3) (q32;p25) gave birth to a son with duplication of 1q32 leads to qter and deletion of 3p25 leads to pter. At 17 1/2 years of age, the proband was severely mentally retarded and presented a pattern of multiple minor dysmorphic stigmata and anomalies, including h...

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Detalles Bibliográficos
Autor Principal: Schinzel, A
Formato: Artigo
Idioma:Inglês
Publicado: 1981
Assuntos:
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1048662/
https://ncbi.nlm.nih.gov/pubmed/7253002
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