Article
Genotype-phenotype correlation in 22q11.2 deletion syndrome.
BMC medical genetics - 17 Dec 2012
Michaelovsky Elena, Frisch Amos, Carmel Miri, Patya Miriam, Zarchi Omer, Green Tamar, Basel-Vanagaite Lina, Weizman Abraham, Gothelf Doron
Abstract excerpt
BACKGROUND: 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 large 22q11.2DS cohort treated and monitored in our clinic using comprehensive clinical evaluation and detailed molecular characterization of the deletion. METHODS:...
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