Mosaicism del(8p)/inv dup(8p) in a dysmorphic female infant: a mosaic formed by a meiotic error at the 8p OR gene and an independent terminal deletion event

Abstract

Various chromosomal rearrangements are associated with the distal 8p region. Among them are the inv dup(8p),1 del(8p22),2–5 and del(8)(pter).6 The cardinal phenotypic features of the inv dup(8p) are brain malformations,...