Discontinuous microduplications at chromosome 10q24.31 identified in a Chinese family with split hand and foot malformation.

ABSTRACT:

Background

Split hand/foot malformation (SHFM) is a congenital disorder characterized by a cleft of the hands and/or feet due to dificiency of central rays. Genomic rearrangement at 10q24 has been found to cause nonsyndromic SHFM (SHFM3).

Methods

Four patients and fourteen unaffected individuals from a four-generation Chinese pedigree with typical SHFM3 phenotypes were recruited for this study. After informed consent was obtained, genome-wide copy number analysis was performed on all patients and two normal family members using the Affymetrix Cytogenetics Whole-Genome 2.7M Array. The results were then confirmed by real-time quantitative polymerase chain reaction in all available individuals of this pedigree. Candidate genes were further screened for mutation through sequence

SUBMITTER: Dai L 

PROVIDER: S-EPMC3637097 | biostudies-literature | 2013 Apr

REPOSITORIES: biostudies-literature