12p trisomy Chromosome 12
An extremely rare duplication of the p region (short arm) of chromosome 12, occurring in about 1 in 50,000 births. Affected individuals have severe craniofacial malformations, postnatal growth and psychomotor developmental delay, intellectual disability, seizures, HYPTONIA, and abnormally short, wide hands.
Also Known As:
Chromosome 12, 12p trisomy; Duplication 12p; Trisomy 12p
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