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.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10989453 | PMC |
| http://dx.doi.org/10.12998/wjcc.v12.i8.1517 | DOI Listing |
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