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Article

[Infantile spasm associated with 5q14.3 microdeletion syndrome: clinical and genetic characterization of a core family].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Feb 2015

Yu Dongyi, Li Shuo, Jiang Nan

Abstract excerpt

OBJECTIVE: To characterize the clinical feature of a child with infantile spasm, karyotype and molecular cytogenetic analyses were performed to investigate the cause of disease and choose a suitable prenatal diagnostic method for the couple with the child. METHOD: Routine G-banding was performed to analyze the karyotype of the patient and her parents, and molecular karyotyping was performed using SNP array....

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 25876691

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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