Array based characterization of a terminal deletion involving chromosome subband 15q26.2: an emerging syndrome associated with growth retardation, cardiac defects and developmental delay.

ABSTRACT:

Background

Subtelomeric regions are gene rich and deletions in these chromosomal segments have been demonstrated to account for approximately 2.5% of patients displaying mental retardation with or without association of dysmorphic features. However, cases that report de novo terminal deletions on chromosome arm 15q are rare.

Methods

In this study we present the first example of a detailed molecular genetic mapping of a de novo deletion in involving 15q26.2-qter, caused by the formation of a dicentric chromosome 15, using metaphase FISH and tiling resolution (32 k) genome-wide array-based comparative genomic hybridization (CGH).

Results

After an initial characterization of the dicentric chromosome by metaphase FISH, array CGH analysis mapped the terminal deletion to en

SUBMITTER: Davidsson J 

PROVIDER: S-EPMC2248164 | biostudies-literature | 2008 Jan

REPOSITORIES: biostudies-literature