Clinical and genetic study of a child with delayed language development carrying ring 22 and a 22q13 microdeletion

VernacularTitle:一例22号环状染色体合并22q13微缺失综合征患儿的临床及遗传学分析
Author: Jinghui KONG ¹ ; Bo ZHANG ; Lili GE ; Yinsen SONG
Author Information

1. 郑州大学附属儿童医院河南省儿童医院郑州儿童医院河南省儿童遗传代谢性疾病重点实验室 450003
Keywords: Ring chromosome 22; 22q13 microdeletion syndrome; Language developmental delay
From: Chinese Journal of Medical Genetics 2020;37(2):175-177
CountryChina
Language:Chinese
Abstract: Objective To explore the genetic basis for a child featuring delayed language development.Methods The patient was subjected to conventional G-banding chromosomal karyotyping and single nucleotide polymorphism microarray (SNP array) analysis.Results The karyotype of the child was 46,XY,r(22)(p11.2q13).SNP array analysis has identified a hemizygous 1.67 Mb deletion at 22q13 (arr [Hg19]22q13.33 (49 531 302-51 197 766) × 1).Conclusion The child has carried a ring 22 in addition with a 22q13 microdeletion.The results may provide clues for her condition and genetic counseling for the family.