The Case with Short Stature and Intellectual Disability Caused by a Novel 2q12 Duplication
Journal of the College of Physicians and Surgeons Pakistan, cilt.32, sa.8, 2022 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 32 Sayı: 8
- Basım Tarihi: 2022
- Doi Numarası: 10.29271/jcpsp.2022.supp2.s113
- Dergi Adı: Journal of the College of Physicians and Surgeons Pakistan
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
- Anahtar Kelimeler: Chromosomal duplication, Copy number variation, DNA, Intellectual disabilities
- Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
- Ankara Yıldırım Beyazıt Üniversitesi Adresli: Evet
Özet
Copy number variation (CNV) is a kind of malfunction of DNA polymerase to produce extra genetic material which leads to more number of repeats in genes. The CNVs have been associated with different clinical phenotypes such as learning disabilities, short stature, and intellectual disability. The chromosomal microarray analysis is an effective diagnostic method for identifying new CNVs and understanding their clinical effects. In this case report, a variation that has not been reported previously in the literature is presented. This case report will contribute to increasing the knowledge. The CNV (arr [hg19] 2q12.1q12.3 (103,368,824-107,946,062) x3) detected in the index case was also detected in her father and male sibling.