Myoclonic Astatic Resistant Epilepsy and Disproportionate Overgrowth Carrying a Duplication in 2q13 and Deletion in the 6p21.32 Chromosomal Regions
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Dosyalar
Tarih
2022
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Coll Physicians & Surgeons Pakistan
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Copy 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.
Açıklama
Anahtar Kelimeler
Myoclonic Astatic Seizure; Resistant Epilepsy; Dermal Atrophy; Chromosomal Microarray Analysis
Kaynak
Jcpsp-Journal of The College of Physicians and Surgeons Pakistan
WoS Q Değeri
Q4
Scopus Q Değeri
Q3
Cilt
32
Sayı
6
