Distal trisomy 6p
Distal trisomy 6p
Definition
Distal trisomy of the short arm of chromosome 6 is characterized by pre- and postnatal growth retardation, a pattern of specific facial features (mostly of the eyes), microcephaly, and developmental delay.
Also known as distal duplication 6p, distal trisomy type 6p, telomeric duplication 6p, trisomy 6pter — per MONDO