Atypical case of Rett syndrome with concurrent MECP2 gene mutation and del(15)(q22qter) karyotype: A case report and review of literature

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World Journal of Clinical Pediatrics

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2219-2808

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

Case Report

World J Clin Pediatr. Dec 9, 2025; 14(4): 109874
Published online Dec 9, 2025. doi: 10.5409/wjcp.v14.i4.109874

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Figure 2 The shows an abnormal female karyotype 46,XX, del(15)(q22qter). Orange arrow shows the terminal deletion in chromosome 15.

Citation: Fadl-Elmula I, Abdel-Raheem SY, Khalid R. Atypical case of Rett syndrome with concurrent MECP2 gene mutation and del(15)(q22qter) karyotype: A case report and review of literature. World J Clin Pediatr 2025; 14(4): 109874
URL: https://www.wjgnet.com/2219-2808/full/v14/i4/109874.htm
DOI: https://dx.doi.org/10.5409/wjcp.v14.i4.109874

Fadl-Elmula I, Abdel-Raheem SY, Khalid R. Atypical case of Rett syndrome with concurrent MECP2 gene mutation and del(15)(q22qter) karyotype: A case report and review of literature. World J Clin Pediatr 2025; 14(4): 109874 [PMID: 41255665 DOI: 10.5409/wjcp.v14.i4.109874]

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