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Article

Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions.

American journal of medical genetics. Part A - 1 Jan 2014

Burgess Trent, Brown Natasha J, Stark Zornitza, Bruno Damien L, Oertel Ralph, Chong Belinda, Calabro Vanessa, Kornberg Andrew, Sanderson Christine, Kelly Julian, Howell Katherine B, Savarirayan Ravi, Hinds Rupert, Greenway Anthea, Slater Howard R, White Susan M

Abstract excerpt

A recurrent proximal microdeletion at 15q25.2 with an approximate 1.5 megabase smallest region of overlap has recently been reported in seven patients and is proposed to be associated with congenital diaphragmatic hernia (CDH), mild to moderate cognitive deficit, and/or features consistent with Diamond-Blackfan anemia. We report on four further patients and define the core phenotypic features of individuals with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 24352913
DOI: 10.1002/ajmg.a.36203

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