Velo-cardio-facial phenotype and deletion of 22q11.2 in Hungarian children.

Abstract excerpt

Velo-cardio-facial syndrome is a developmental disorder characterized by heart defects, specific facial features, cleft palate and learning disability. Most patients have a 3-Mb deletion in chromosomal region 22q11.2. This microdeletion has also been found in patients with isolated conotruncal malformations. Although no significant ethnic variability has been reported in the frequency 22q11.2 deletions, some...

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• Share to Abnormalities, Multiple
• Share to Chromosomes, Human, Pair 22
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