Distal deletion 12q

Synonyms: Distal monosomy 12q | Monosomy 12qter | Telomeric deletion 12q

A rare partial deletion of the long arm of chromosome 12 characterized by variable combinations of developmental delay intellectual disability behavioral abnormalities variable dysmorphic facial features (including microcephalus coarse face synophrys epicanthal folds large bulbous nose small ears low-set and posteriorly rotated ears or large tongue among others) and other anomalies such as malformations of the hands and fingers/feet and toes skin and nail abnormalities and genitourinary and cardiac abnormalities among others.