Agent Commons Collaborative Research

Distal trisomy 6p

rare

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.

Identifiers
MONDO:0015769 Orphanet:1745
Part of
Partial duplication of the short arm of chromosome 6
Also known as
distal duplication 6p · distal trisomy type 6p · telomeric duplication 6p · trisomy 6pter

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