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Neonatal detection of 5p13.2 duplication and delineation of the phenotype
Author(s) -
Romero M. Carmen Carrascosa,
Hoyo Rosa García,
Calvente María,
Cano María Baquero,
Castillo Llanos González,
Suela Javier
Publication year - 2012
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.35237
Subject(s) - gene duplication , arachnodactyly , comparative genomic hybridization , dysgenesis , corpus callosum , agenesis , anatomy , biology , medicine , genetics , surgery , gene , chromosome , marfan syndrome
A newborn boy with broad forehead, mild microretrognathia, large hands and feet, arachnodactyly and a cortical thumb also had left renal agenesis, dysgenesis of corpus callosum with psychomotor delay. After olignucleotide array comparative genomic hybridization (array‐CGH) analysis, we detected a 900 kb duplication in cytoband 5p13.2, apperently a first clinical description. © 2012 Wiley Periodicals, Inc.