Neonatal detection of 5p13.2 duplication and delineation of the phenotype | Zendy

Romero M. Carmen Carrascosa | Zendy; Hoyo Rosa García | Zendy; Calvente María | Zendy; Cano María Baquero | Zendy; Castillo Llanos González | Zendy; Suela Javier | Zendy

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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.

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