• J Coll Physicians Surg Pak · Jun 2022

    Case Reports

    Myoclonic Astatic Resistant Epilepsy and Disproportionate Overgrowth Carrying a Duplication in 2q13 and Deletion in the 6p21.32 Chromosomal Regions.

    • Sevim Turay, Recep Eroz, and Ebru Karagun.
    • Department of Pediatric Neurology, Duzce University Medical Faculty, Duzce, Turkey.
    • J Coll Physicians Surg Pak. 2022 Jun 1; 32 (6): 808-810.

    AbstractCopy number variants have been increasing due to a rise in the availability of array comparative genomic hybridisation, which occupies an important place in diagnosis, especially in patients with epilepsy, dysmorphic findings, and intellectual disability. We detected 2q13 chromosomal duplication and 6p21.32 chromosomal deletion in a patient under follow-up due to epilepsy, developmental retardation, dysmorphic findings, and asymmetric overgrowth in our clinic since the age of six months. The parents had only 2q13 mutations. Copy number variation in 2q13 is associated with dysmorphic findings, psychiatric disorders, and developmental delays. However, the exact pathogenicity is not yet known. We think that 6p21.32 chromosomal deletion caused resistant epilepsy and lipodystrophy in this patient. We anticipate that this case will contribute to the literature by linking disorders caused by the current chromosomal abnormality to clinical findings. Key Words: Myoclonic astatic seizure, Resistant epilepsy, Dermal atrophy, Chromosomal microarray analysis.

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