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Karyotype analysis in children with idiopathic intellectual disability

Huseyin Caksen, Hayrettin Okut, Mevlit Ikbal.

Cited by (1)

Abstract
Intellectual disability is a heterogeneous condition, affecting 1-3% of general population. In this study, karyotype analysis was performed in 33 children with idiopathic ID in a hospital with limited laboratory facilities to determine value of karyotype analysis as a first step test in children with idiopathic ID. Thirty-three patients with idiopathic intellectual disability were included in the study. GTL banding karyotype resolution at a standard resolution of 550 bands was performed to determine whether the patients had microdeletion/microduplication by using of conventional karyotype analysis. Of 33 children, seven (21.2%) showed various chromosomal changes. Polymorphisms including 46,XX,1qh+; 46,XX,1qh+,1qh+; 46,X,add(Y),q12; 46,XY,21ps+; and 46,XX,1qh+ were diagnosed in five children. Inversion (46,XY,inv9(p12q13), and inversion and polymorphisms (46,XY,inv9(p12q13),13ps+) were diagnosed in two children, respectively. We think that inv(9)(p12q13) is a benign variant. In conclusion, our findings showed that karyotype analysis was not helpful to determine etiology in children with idiopathic ID because of probably low patient number in our study.

Key words: Idiopathic intellectual disability; Chromosomal analysis; Child


 
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How to Cite this Article
Pubmed Style

Caksen H, Okut H, Ikbal M. Karyotype analysis in children with idiopathic intellectual disability. Sudan J Paed. 2019; 19(1): 57-59. doi:10.24911/SJP.106-1539963785


Web Style

Caksen H, Okut H, Ikbal M. Karyotype analysis in children with idiopathic intellectual disability. http://www.sudanjp.com/?mno=13463 [Access: October 17, 2019]. doi:10.24911/SJP.106-1539963785


AMA (American Medical Association) Style

Caksen H, Okut H, Ikbal M. Karyotype analysis in children with idiopathic intellectual disability. Sudan J Paed. 2019; 19(1): 57-59. doi:10.24911/SJP.106-1539963785



Vancouver/ICMJE Style

Caksen H, Okut H, Ikbal M. Karyotype analysis in children with idiopathic intellectual disability. Sudan J Paed. (2019), [cited October 17, 2019]; 19(1): 57-59. doi:10.24911/SJP.106-1539963785



Harvard Style

Caksen, H., Okut, . H. & Ikbal, . M. (2019) Karyotype analysis in children with idiopathic intellectual disability. Sudan J Paed, 19 (1), 57-59. doi:10.24911/SJP.106-1539963785



Turabian Style

Caksen, Huseyin, Hayrettin Okut, and Mevlit Ikbal. 2019. Karyotype analysis in children with idiopathic intellectual disability. Sudanese Journal of Paediatrics, 19 (1), 57-59. doi:10.24911/SJP.106-1539963785



Chicago Style

Caksen, Huseyin, Hayrettin Okut, and Mevlit Ikbal. "Karyotype analysis in children with idiopathic intellectual disability." Sudanese Journal of Paediatrics 19 (2019), 57-59. doi:10.24911/SJP.106-1539963785



MLA (The Modern Language Association) Style

Caksen, Huseyin, Hayrettin Okut, and Mevlit Ikbal. "Karyotype analysis in children with idiopathic intellectual disability." Sudanese Journal of Paediatrics 19.1 (2019), 57-59. Print. doi:10.24911/SJP.106-1539963785



APA (American Psychological Association) Style

Caksen, H., Okut, . H. & Ikbal, . M. (2019) Karyotype analysis in children with idiopathic intellectual disability. Sudanese Journal of Paediatrics, 19 (1), 57-59. doi:10.24911/SJP.106-1539963785





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