Article
[Clinical and genetic study of a child with delayed language development carrying ring 22 and a 22q13 microdeletion].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Feb 2020
Kong Jinghui, Zhang Bo, Ge Lili, Song Yinsen
Abstract excerpt
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...
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