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[From prenatal screening to passive diagnosis in adulthood: Phenotypic association analysis of 224 patients with Klinefelter syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Mar 2026

Zhang Huanhuan, Wu Yong, Xie Yamei, Liu Qingsong

Abstract excerpt

OBJECTIVE: To investigate the detection patterns, clinical phenotypic characteristics, and differences in diagnostic timeliness of Klinefelter syndrome (KS) across prenatal and postnatal stages, with an aim to provide a basis for optimizing strategies for early screening, diagnosis, and intervention. METHODS: A retrospective study was conducted to analyze data from two phases. The prenatal diagnosis group...

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PMID: 41916885
DOI: 10.3760/cma.j.cn511374-20250903-00566

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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