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Prenatal Diagnosis and Molecular Cytogenetic Analyses of a Rare 17q12 Microdeletion and Microduplication in a Family with a Normal Phenotype.

Alternative therapies in health and medicine - 1 Oct 2024

Xie Mingxia, Tang Dongling, Guo Fenglian

Abstract excerpt

Background: Copy number variants (CNVs) contribute significantly to normal and pathogenic genomic variations. Chromosome 17q12 microdeletion is implicated in structural or functional kidney and urethral abnormalities, MODY5 (type 5 diabetes), and neurodevelopmental or neuropsychiatric disorders. Conversely, microduplication of 17q12, though rare, elevates the risk of epilepsy and mental retardation. Case...

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PMID: 38330560

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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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