Redefined genomic architecture in 15q24 directed by patient deletion/duplication breakpoint mapping.

ABSTRACT: We report four new patients with a submicroscopic deletion in 15q24 manifesting developmental delay, short stature, hypotonia, digital abnormalities, joint laxity, genital abnormalities, and characteristic facial features. These clinical features are shared with six recently reported patients with a 15q24 microdeletion, supporting the notion that this is a recognizable syndrome. We describe a case of an ~2.6 Mb microduplication involving a portion of the minimal deletion critical region in a 15-year-old male with short stature, mild mental retardation, attention deficit hyperactivity disorder, Asperger syndrome, decreased joint mobility, digital abnormalities, and characteristic facial features. Some of these features are shared with a recently reported case with a 15q24 microduplication i

SUBMITTER: El-Hattab AW 

PROVIDER: S-EPMC3669685 | biostudies-literature | 2009 Oct

REPOSITORIES: biostudies-literature