A patient with constitutional ring 1 chromosome characterized by SNP array CGH.

ABSTRACT: We present a male patient with constitutional ring 1 chromosome and subsequent 6 Mb deletion at 1q43q44. The patient displays overlapping clinical features with reported patients with ring 1 chromosome and 1q43q44 microdeletion syndrome. To our knowledge, this is the first patient with ring 1 chromosome characterized by comparative genomic hybridization.

SUBMITTER: Saliganan S 

PROVIDER: S-EPMC4831404 | biostudies-literature | 2016 Apr

REPOSITORIES: biostudies-literature