ESPE2022 Poster Category 2 Late Breaking (14 abstracts)
A novel 2q12 duplication causes intellectual disability and short stature in a Turkish family
Pınar Kocaay , Derya Tepe & Ahmet Cevdet Ceylan
Ankara Bilkent City Hospital, Ankara, Turkey
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. 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
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