Novel isolated ۱p۳۶.۳۳ duplication with developmental disorder, epilepsy and dysmorphic features

Background: The ۱p۳۶ chromosomal region is prone to copy number variations (CNVs) including common deletion alterations and few duplication variants both with high probability of complex chromosomal rearrangement. This study reports a novel isolated duplication of ۱p۳۶.۳۳ in a patient presented with developmental delay, seizure and dysmorphic features. It also discusses the implications for diagnostic molecular testing and genetic counseling. Methods: Whole-genome oligonucleotide-based array comparative genomic hybridization (array-CGH) was utilized to identify the CNV, which was validated through quantitative real-time PCR (qPCR). In silico analysis guided by ACMG criteria provided insights into the interpretation of the CNV. An extensive diagnostic workup, including blood work, MRI, EEG, and echocardiogram was employed to uncover the underlying pathology in our patient. Results: The ۲.۲۳۶ Mb duplication in the ۱p۳۶.۳۳p۳۶.۳۲ region (nucleotide positions ۸۳۴,۱۰۱ to ۳,۰۷۰,۵۰۹) was identified in our patient. Following ACMG guidelines, this CNV was classified as pathogenic.

کلیدواژه ها:

Developmental delay ، facial dysmorphism ، ۱p۳۶.۳۳ duplication ، Array CGH