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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
Author(s) -
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
Publication year - 2013
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35777
Subject(s) - comparative genomic hybridization , monosomy , craniofacial , chromosomal translocation , trigonocephaly , genetics , biology , microarray , trisomy , craniofacial abnormality , partial trisomy , cortical dysplasia , computational biology , genome , chromosome , craniosynostosis , karyotype , gene , neuroscience , gene expression , epilepsy