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. 2022 May;13(3):184-192.
doi: 10.1159/000517762. Epub 2021 Dec 15.

Clinical Implications of Chromosome 16 Copy Number Variation

Emine Ikbal Atli  1 , Sinem Yalcintepe  1 , Engin Atli  1 , Selma Demir  1 , Cisem Mail  1 , Hakan Gurkan  1
Affiliations

Clinical Implications of Chromosome 16 Copy Number Variation

Emine Ikbal Atli et al. Mol Syndromol. 2022 May.

Abstract

Chromosome 16 is one of the gene-rich chromosomes; however, approximately 10% of the chromosome 16 sequence is composed of segmental copies, which renders this chromosome instable and predisposes it to rearrangements via frequent nonallelic homologous recombination. Microarray technologies have enabled the analysis of copy number variations (CNV), which may be associated with the risk of developing complex diseases. Through comparative genomic hybridisation in 1,298 patients, we detected 18 cases with chromosome 16 CNV. We identified 2recurrent CNV regions, including 1 at 16p13.11 in 4 patients and another at 16p11.2 in 7 patients. We also detected atypical chromosome 16 rearrangements in 7 patients. Furthermore, we noted an increased frequency of co-occurring genomic changes, supporting the two-hit hypothesis to explain the phenotypic variability in the clinical presentation of CNV syndromes. Our findings can contribute to the creation of a chromosome 16 disease map based on regions that may be associated with disease development.

Keywords: Array CGH; Clinical heterogeneity; Copy number variation; Microdeletion syndrome; Microduplication syndrome; Molecular cytogenetics.

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Conflict of interest statement

The authors declare that they have no conflicts of interest.

Figures

Fig. 1
Fig. 1
Distribution of CNVs among chromosome 16.
Fig. 2
Fig. 2
Phenotypic images of a patient with deletion 16q22.1q22.2 (patient #6).
Fig. 3
Fig. 3
Microarray results of proband #6 sample. The results show genomic imbalance of deletions in the 16q22.1q22.2 chromosome region.
See this image and copyright information in PMC

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