De novo unbalanced translocation leading to monosomy 9p24.3p24.1 and trisomy 19q13.42q13.43 characterized by microarray-based comparative genomic hybridization in a child with partial cortical dysplasia and craniofacial dysmorphisms without trigonocephaly.

作者信息

Resta Nicoletta, De Cosmo Lucrezia, Susca Francesco Claudio, Capodiferro Donatella, Nardone Anna Maria, Pastorivo Diana, Bertoli Marta, Serlenga Carmela, Burattini Mariagabriella, Schettini Federico, Laforgia Nicola

出版信息

Am J Med Genet A. 2013 Mar;161A(3):632-6. doi: 10.1002/ajmg.a.35777. Epub 2013 Feb 7.

DOI:10.1002/ajmg.a.35777

PMID:23401394

Abstract

摘要

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Three Offspring with Cri-du-Chat Syndrome from Phenotypically Normal Parents.来自表型正常父母的三名患有猫叫综合征的后代。

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