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Article

[Genetic analysis of a child with XYY syndrome in conjunct with 3-methylglutaenedioic aciduria type I].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jul 2022

Zhang Xinli, Shen Guosong, Pan Liming, Shen Xueping, Zhang Yaqin

Abstract excerpt

OBJECTIVE: To explore the genetic basis for a child with mental retardation. METHODS: The child was subjected to chromosomal microarray analysis (CMA) and targeted capture next-generation sequencing for the exons of genes related to genetic and metabolic diseases. Candidate variants were verified by Sanger sequencing of the child and his parents. RESULTS: CMA suggested that the child has a 47,XYY karyotype....

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PMID: 35810438
DOI: 10.3760/cma.j.cn511374-20210309-00200

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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