Authors

Abeer Al-Kindy

Publications 1

Research article Open access

De Novo Duplication of 7p21.1p22.2 in a Child with Autism Spectrum Disorder and Craniofacial Dysmorphism

Achandira M. Udayakumar, Watfa Al-Mamari, Abeer Al-Kindy et al. · Sultan Qaboos University Medical Journal · 2025 · 10.18295/2075-0528.1715

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 …

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