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Article

A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review.

BMC medical genetics - 2 Jun 2009

Fernández Luis, Nevado Julián, Santos Fernando, Heine-Suñer Damià, Martinez-Glez Victor, García-Miñaur Sixto, Palomo Rebeca, Delicado Alicia, Pajares Isidora López, Palomares María, García-Guereta Luis, Valverde Eva, Hawkins Federico, Lapunzina Pablo

Abstract excerpt

BACKGROUND: Individuals affected with DiGeorge and Velocardiofacial syndromes present with both phenotypic diversity and variable expressivity. The most frequent clinical features include conotruncal congenital heart defects, velopharyngeal insufficiency, hypocalcemia and a characteristic craniofacial dysmorphism. The etiology in most patients is a 3 Mb recurrent deletion in region 22q11.2. However, cases of...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 19490635
DOI: 10.1186/1471-2350-10-48
PMCID: PMC2700091

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A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review.PMID 19490635Read ↗

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