Genotype-phenotype correlation in 22q11.2 deletion syndrome

Genotype-phenotype correlation in 22q11.2 deletion syndrome

<p>Abstract</p> <p>Background</p> <p>The 22q11.2 deletion syndrome (22q11.2DS) is caused by hemizygous microdeletions on chromosome 22q11.2 with highly variable physical and neuropsychiatric manifestations. We explored the genotype-phenotype relationship in a relatively...

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Bibliographic Details
Main Authors: Michaelovsky Elena, Frisch Amos, Carmel Miri, Patya Miriam, Zarchi Omer, Green Tamar, Basel-Vanagaite Lina, Weizman Abraham, Gothelf Doron
Format: Article
Language:English
Published: BMC 2012-12-01
Series:BMC Medical Genetics
Subjects:
Velocardiofacial syndrome (VCFS)
Multiplex ligation probe amplification (MLPA)
Copy number variation (CNV)
Molecular diagnosis
Neuropsychiatric disorders
Online Access:http://www.biomedcentral.com/1471-2350/13/122

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http://www.biomedcentral.com/1471-2350/13/122

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