A novel deletion in proximal 22q associated with cardiac septal defects and microcephaly: a case report.

ABSTRACT:

Background

Proximal 22q is rich in low copy repeats (LCRs) which mediate non-allelic homologous recombination and give rise to deletions and duplications of varying size depending on which LCRs are involved.

Methods

A child with multiple septal defects and other congenital anomalies was investigated for genome imbalance using multiplex ligation-dependent probe amplification (MLPA) for subtelomeres and microdeletion loci, followed by array comparative genomic hybridization (CGH) using oligonucleotide arrays with 44,000 probes across the genome.

Results

MLPA identified a single probe deletion in the SNAP29 gene within band 22q11.21. Follow-up array CGH testing revealed a ~1.4-Mb deletion from 19,405,375 bp to 20,797,502 bp, encompassing 28 genes.

Conclusion

This

SUBMITTER: Ogilvie CM 

PROVIDER: S-EPMC2669095 | biostudies-literature | 2009 Feb

REPOSITORIES: biostudies-literature