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Partial monosomy of 7q32 in a case of de novo rcp(7;15)(q32;q15).

A de novo apparently balanced translocation between chromosomes 7 and 15 with breakpoints in q32 and q15 respectively is reported in a female child. Clinical features included general growth and psychomotor retardation, feeding problems, microcephaly, low set ears, a short neck, and brachydactyly. T...

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Bibliografiske detaljer
Main Authors: D'Alessandro, E, Ligas, C, Lo Re, M L, Marcanio, M P, Gentile, T, Del Porto, G
Format: Artigo
Sprog:Inglês
Udgivet: 1994
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1049877/
https://ncbi.nlm.nih.gov/pubmed/8064823
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