A child with an inherited 0.31 Mb microdeletion of chromosome 14q32.33: Further delineation of a critical region for the 14q32 deletion syndrome

Volume: 158A, Issue: 8, Pages: 1962 - 1966
Published: Apr 9, 2012
Abstract
Chromosome 14q32.3 deletions are uncommon, with most described patients harboring a ring chromosome 14. Only 15 deletions have been described not associated with ring formation or other complex chromosomal rearrangements. Here, we describe a child with the smallest deletion of chromosome 14q32.3 reported in the literature. This child's deletion encompasses at most 0.305 Mb and six genes including NUDT14 , BRF1 , BTBD6 , PACS2 , MTA1 , and TEX22...
Paper Details
Title
A child with an inherited 0.31 Mb microdeletion of chromosome 14q32.33: Further delineation of a critical region for the 14q32 deletion syndrome
Published Date
Apr 9, 2012
Volume
158A
Issue
8
Pages
1962 - 1966
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