Abstract
The duplication of the short arm of chromosome 7 as de novo is extremely rare. The phenotype spectrum varies depending on the region of duplication. We report a case of de novo duplication of chromosomal region 7p21.1p22.2 in a three-year-old male child with autism who presented to the Sultan Qaboos University Hospital in Muscat, Oman, in January 2012. The patient was diagnosed with craniofacial dysmorphism, global developmental delay, hypotonia and bilateral cryptorchidism. The duplication was detected by conventional G-banded karyotype analysis/fluorescence in situhybridisation and confirmed by array comparative genomic hybridisation. To the best of the authors’ knowledge, this is the first report of chromosomal region 7p21.1 involvement in an autistic patient showing features of a 7p duplication phenotype. Identifying genes in the duplicated region using molecular techniques is recommended to promote characterisation of the phenotype and associated condition. It may also reveal the possible role of these genes in autism spectrum disorder.
Subject
Publication details
- DOI
- 10.18295/2075-0528.1715
- Journal
- Sultan Qaboos University Medical Journal, 15(3), 415-419
- Publisher
- Sultan Qaboos University
- Open access
- Gold open access
- License
- CC BY-ND 4.0
Cite this article
APA 7
Udayakumar, A. M., Al-Mamari, W., Al-Kindy, A., & A., A. (2025). De Novo Duplication of 7p21.1p22.2 in a Child with Autism Spectrum Disorder and Craniofacial Dysmorphism. Sultan Qaboos University Medical Journal, 15(3), 415-419. https://doi.org/10.18295/2075-0528.1715
MLA 9
Udayakumar, Achandira M., et al. "De Novo Duplication of 7p21.1p22.2 in a Child with Autism Spectrum Disorder and Craniofacial Dysmorphism." Sultan Qaboos University Medical Journal, vol. 15, no. 3, 2025, pp. 415-419. https://doi.org/10.18295/2075-0528.1715.
Chicago (author–date)
Udayakumar, Achandira M., Watfa Al-Mamari, Abeer Al-Kindy, and Adil A. 2025. "De Novo Duplication of 7p21.1p22.2 in a Child with Autism Spectrum Disorder and Craniofacial Dysmorphism." Sultan Qaboos University Medical Journal 15 (3): 415-419. https://doi.org/10.18295/2075-0528.1715.
Harvard
Udayakumar, A. M., Al-Mamari, W., Al-Kindy, A. and A., A. (2025) 'De Novo Duplication of 7p21.1p22.2 in a Child with Autism Spectrum Disorder and Craniofacial Dysmorphism', Sultan Qaboos University Medical Journal, 15(3), pp. 415-419. doi:10.18295/2075-0528.1715.
Vancouver
Udayakumar AM, Al-Mamari W, Al-Kindy A, A. A. De Novo Duplication of 7p21.1p22.2 in a Child with Autism Spectrum Disorder and Craniofacial Dysmorphism. Sultan Qaboos University Medical Journal. 2025;15(3):415-419. doi:10.18295/2075-0528.1715
IEEE
A. M. Udayakumar, W. Al-Mamari, A. Al-Kindy, and A. A., "De Novo Duplication of 7p21.1p22.2 in a Child with Autism Spectrum Disorder and Craniofacial Dysmorphism," Sultan Qaboos University Medical Journal, vol. 15, no. 3, pp. 415-419, 2025, doi: 10.18295/2075-0528.1715.