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J Coll Physicians Surg Pak · Aug 2022
Case ReportsThe Case with Short Stature and Intellectual Disability Caused by a Novel 2q12 Duplication.
- Pinar Kocaay, Ahmet Cevdet Ceylan, and Derya Tepe.
- Department of Pediatric Endocrinology, Ankara City Hospital, Ankara, Turkey.
- J Coll Physicians Surg Pak. 2022 Aug 1; 32 (8): S113-S114.
AbstractCopy 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. Key Words: DNA, Copy number variation, Chromosomal duplication, Intellectual disabilities.
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