Genetic analysis of a child with Sotos syndrome

VernacularTitle:Sotos综合征患儿的遗传学分析
Author: Yuqin LUO ¹ ; Yixi SUN ; Yeqing QIAN ; Min SHEN ; Liya WANG ; Fan JIN ; Minyue DONG
Author Information

1. 浙江大学医学院附属妇产科医院生殖遗传科
Keywords: Single nucleotide polymorphism array; Sotos syndrome; Fluorescence in situ hybridization; Reciprocal translocation
From: Chinese Journal of Medical Genetics 2020;37(2):127-130
CountryChina
Language:Chinese
Abstract: Objective To explore the genetic basis for a child with mentally retardation.Methods G-banding karyotyping,single nucleotide polymorphism array (SNP-array) and fluorescence in situ hybridization (FISH) were performed for the child.Karyotyping and FISH were also carried out for her parents.Results SNP-array has detected a 5077 kb microdeletion at 5q35.2q35.3 and a 4964 kb microduplication at 7q36.2q36.3 in the child.The results were confirmed by FISH.Based on above results,the father was subsequently found to carry a cryptic t(5;7)(q35.2;q36.2) translocation.The child was verified to have inherited a der(5) t(5;7) (q35.2;q36.2) from her father.Conclusion The 5077 kb microdeletion at 5q35.2q35.3 may have predisposed to the Sotos syndrome in the child.SNP-array combined with G-banding karyotyping and FISH can help to detect cryptic chromosomal translocations among patients.