Recurrent microdeletion 2q21.1: report on a new patient with neurological disorders.

Am J Med Genet A 2014 Mar 20;164A(3):801-5. Epub 2013 Dec 20.

Service of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.

Whole genome profiling such as array comparative genomic hybridization has identified novel genomic imbalances. Copy number studies led to an explosion of the discoveries of new segmental duplication-mediated deletions and duplications. These rearrangements are mostly the result of non-allelic homologous recombination (NAHR) between low-copy repeats or segmental duplications. We have identified an individual with a small, rare deletion on chromosome 2q21.1 with psychomotor delay, hyperactivity, and aggressive behavior. The rearranged region is flanked by large complex low-copy repeats and includes only five genes: GPR148, FAM123C (AMER3), ARHGEF4, FAM168B, and PLEKHB2. The comparison between our patient and the cases previously reported in the literature contributes to a better definition of genotype-phenotype correlation of 2q21.1 microdeletions.

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http://dx.doi.org/10.1002/ajmg.a.36357DOI Listing
March 2014

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