Phenotypic and genetic analysis of a child with multiple malformations due to 10p13p15.3 duplication

VernacularTitle:10p末端三体致多发畸形的临床表型及遗传学分析
Author: Xiaocha XU ¹ ; Ting ZHANG ; Yaping SHEN ; Jing ZHENG ; Rulai YANG
Author Information

1. 浙江大学医学院附属儿童医院遗传与代谢科
Keywords: 10p trisomy; 10p13p15.3 duplication; Translocation
From: Chinese Journal of Medical Genetics 2020;37(2):170-174
CountryChina
Language:Chinese
Abstract: Objective To explore the basis for a child with multiple malformations and correlate her genotype with phenotype.Methods The child was subjected to G-banding chromosomal analysis first,and low-coverage massively parallel copy number variation sequencing (CNV-seq) was used to define the aberrant region.The results were verified by fluorescence in situhybridization (FISH).Results The child was found to have a karyotype of 46,XX,3pter+?.CNV-seq has identified a 13.5 Mb duplication at 10p13p15.3(60 466-13 556 655) and a 636 kb microdeletion at 3p26.3 (60 064-695 821).Her karyotype was the refore specified as 46,XX,ish der (3) t (3;10) (10p +,3pdim) by FISH.Both of her parents were normal,which suggested an de novo origin of the above variant.Conclusion The de novo 10p13p15.3 duplication probably underlies the mental retardation,development delay,dysmorphism,and gastroesophageal reflux in the child.The CHL1 gene from the 3p26.3 region may play an important role in the formation and function of the brain,which may underlie the intellectual deficit in this child.