Haploinsufficiency and triploinsensitivity of the same 6p25.1p24.3 region in a family.

ABSTRACT:

Background

Chromosome 6pter-p24 deletion syndrome (OMIM #612582) is a recognized chromosomal disorder. Most of the individuals with this syndrome carry a terminal deletion of the short arm of chromosome 6 (6p) with a breakpoint within the 6p25.3p23 region. An approximately 2.1 Mb terminal region has been reported to be responsible for some major features of the syndrome. The phenotypic contributions of other deleted regions are unknown. Interstitial deletions of the region are uncommon, and reciprocal interstitial duplication in this region is extremely rare.

Case presentation

We present a family carrying an interstitial deletion and its reciprocal duplication within the 6p25.1p24.3 region. The deletion is 5.6 Mb in size and was detected by array comparative genomic hybridiz

SUBMITTER: Qi Z 

PROVIDER: S-EPMC4502905 | biostudies-literature | 2015 Jul

REPOSITORIES: biostudies-literature