Genetic and phenotypic analysis of a case of epilepsy with developmental retardation caused by partial duplication of long arm of chromosome 19

VernacularTitle:19号染色体长臂部分重复致癫痫伴发育落后1例遗传及表型分析
Author: Xin WANG ; Liangjie GUO ; Xinrui LI ; Bing KANG ; Dong WU ; Shixiu LIAO
From: Chinese Journal of Applied Clinical Pediatrics 2021;36(3):213-215
CountryChina
Language:Chinese
Abstract: Objective:To investigate the genetic etiology of a child with epilepsy accompanied by motor retardation.Methods:A patient with epilepsy and motor retardation in Henan Provincial People′s Hospital in January 2020 and his parents′ peripheral blood 2 mL were collected.G-banded karyotyping and array-based comparative genomic hybridization (aCGH) were used to analyze the duplication / deletion of chromosome segments in child and her pa-rents.Results:The karyotype of the patient revealed 46, XX, and add(19)(p13.3→qter), whereas aCGH detected a 9.50 Mb duplication at 19q13.33q13.43[arr(hg19)(49593920_59092570)×3]. This region contains 471 genes.No abnormality was discovered in the karyotyping and aCGH analysis of the patient′s parents.The phenotypes of the patient conformed to the previously reported clinical characteristics of 19q13.3 duplication.Conclusions:The de novo 19q13.3 duplication is the cause of epilepsy and motor development retardation for the patient.Combined with aCGH, the traditional G banding is valuable to diagnose the patient with developmental delay.