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[Clinical phenotypes and genetic study of 2 cases with 22q13 deletion syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jun 2018

Luo Jihang, Fang Di, Qiu Wenjuan, Xiao Bing, Fan Yanjie, Ye Jun, Han Lianshu, Zhang Huiwen, Yu Yongguo, Liang Lili, Gu Xuefan

Abstract excerpt

OBJECTIVE: To determine the genetic etiology and clinical characteristics of 2 boys featuring development delay (DD). METHODS: Routine chromosomal banding was performed to analyze the karyotypes of the patients and their parents. Single nucleotide polymorphism array (SNP array) analysis was employed to identify pathogenic deletion/duplication of chromosomes, and quantitative real-time PCR (qPCR) was performed to...

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PMID: 29896732
DOI: 10.3760/cma.j.issn.1003-9406.2018.03.012

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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