A de novo direct duplication of 16q22.1 --> q23.1 in a boy with midface hypoplasia and mental retardation.

摘要

Duplication of the entire long arm of chromosome 16 causes a malformation syndrome with early postnatal lethality, with a phenotype resembling trisomy 18. The clinical picture of distal trisomy with familial rearrangements tends to be milder than that of complete dup(16q). Here, we describe a boy with a de novo direct distal duplication of chromosome 16q.