Trisomy 18p
Trisomy 18p
Definition
Trisomy 18p is an extremely rare chromosomal anomaly with a poorly defined clinical phenotype. Reported manifestations include short stature, mild, moderate or severe developmental delay and intellectual disability, variable but mild facial dysmorphism, and epilepsy.
Also known as Duplication 18p, Duplication of the short arm of chromosome 18, trisomy of the short arm of chromosome 18, trisomy type 18p — per MONDO