Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.

ABSTRACT: Chromosomal band 1q21.1 can be divided into two distinct regions, proximal and distal, based on segmental duplications that mediate recurrent rearrangements. Microdeletions and microduplications of the distal region within 1q21.1, which are susceptibility factors for a variety of neurodevelopmental phenotypes, have been more extensively studied than proximal microdeletions and microduplications. Proximal microdeletions are known as a susceptibility factor for thrombocytopenia-absent radius (TAR) syndrome, but it is unclear if these proximal microdeletions have other phenotypic consequences. Therefore, to elucidate the clinical significance of rearrangements of the proximal 1q21.1 region, we evaluated the phenotypes in patients identified with 1q21.1 rearrangements after referral for clinic

SUBMITTER: Rosenfeld JA 

PROVIDER: S-EPMC3376272 | biostudies-literature | 2012 Jul

REPOSITORIES: biostudies-literature