distal trisomy 6p
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.
MONDO:0016943
partial duplication of the short arm of chromosome 6
is_a
distal duplication 6p
exact
distal trisomy type 6p
exact
telomeric duplication 6p
exact
trisomy 6pter
exact