Detection of 4p16.3 deletion and 11p15.5p15.4 gain in a boy by comparative genomic hybridization array: A case report

Abstract

Background: Nonallelic homologous recombination (NAHR) of segmental duplications or low copy repeats (LCRs) result in DNA gain/loss and play an important role in the origin of genomic disorders.

Case summary: A 3-year- old boy was referred for genetic analysis. Comparative genomic hybridization array analysis revealed a loss of 3776 kb in the 4p16.3 chromosomal region and a gain of 3201 kb in the 11p15.5p15.4 chromosomal region.

Conclusion: Genomic imbalances caused by NAHR in LCRs result in deletion and duplication syndromes.

Keywords: Case report; Recurrent rearrangements; Silver-Russell syndrome; Wolf-Hirschhorn syndrome.