The Case with Short Stature and Intellectual Disability Caused by a Novel 2q12 Duplication

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Kocaay P., Ceylan A. C., Tepe D.

Journal of the College of Physicians and Surgeons Pakistan, vol.32, no.8, 2022 (SCI-Expanded, Scopus)

• Publication Type: Article / Article
• Volume: 32 Issue: 8
• Publication Date: 2022
• Doi Number: 10.29271/jcpsp.2022.supp2.s113
• Journal Name: Journal of the College of Physicians and Surgeons Pakistan
• Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database
• Keywords: Chromosomal duplication, Copy number variation, DNA, Intellectual disabilities
• Open Archive Collection: AVESIS Open Access Collection
• Ankara Yıldırım Beyazıt University Affiliated: Yes

Abstract

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.