The Case with Short Stature and Intellectual Disability Caused by a Novel 2q12 Duplication
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 chr...
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| Veröffentlicht in: | Journal of the College of Physicians and Surgeons--Pakistan 2022-08, Vol.32 (8 SI), p.S113-S114 |
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| container_end_page | S114 |
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| container_issue | 8 SI |
| container_start_page | S113 |
| container_title | Journal of the College of Physicians and Surgeons--Pakistan |
| container_volume | 32 |
| creator | Kocaay, Pinar Ceylan, Ahmet Cevdet Tepe, Derya |
| description | 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. Key Words: DNA, Copy number variation, Chromosomal duplication, Intellectual disabilities. |
| doi_str_mv | 10.29271/jcpsp.2022.Supp2.S113 |
| format | Article |
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| source | Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals |
| subjects | Case studies Causes of Chromosome abnormalities Copy number variations Genetic aspects Mental retardation Stature, Short |
| title | The Case with Short Stature and Intellectual Disability Caused by a Novel 2q12 Duplication |
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