1P36 deletion syndrome

1p36 deletion syndrome (monosomy 1p36 syndrome) is characterized by a deletion on the short arm of chromosome 1. The disorder is characterized by dysmorphic craniofacial features, developmental delay, brain abnormalities, short feet, congenital heart defects, hypotonia, and brachy/camptodactyly. Most cases are not inherited (de novo). View testing options