Clinical Implications of Chromosome 16 Copy Number Variation
Küçük Resim Yok
Tarih
2022
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Karger
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
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.
Açıklama
Anahtar Kelimeler
Microdeletion Syndrome, Microduplication Syndrome, Molecular Cytogenetics, Array CGH, Clinical Heterogeneity, Copy Number Variation, 16p11.2 Deletion, Gene, Phenotypes, Autism, Rearrangements, Microdeletion, Duplications, Disorders, Variants
Kaynak
Molecular Syndromology
WoS Q Değeri
Q4
Scopus Q Değeri
Q4
Cilt
13
Sayı
3
