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Article

Partial maternal heterodisomy of chromosome 17q25 in a case of severe mental retardation.

Human genetics - 1 Jun 2001

Rio M, Ozilou C, Cormier-Daire V, Turleau C, Prieur M, Vekemans M, Chauveau P, Munnich A, Colleaux L

Abstract excerpt

We report a segmental maternal uniparental heterodisomy of chromosome 17 (mat UPD17) in a 3-year-old boy presenting with hyperactivity, major instability, mental retardation and facial dysmorphism. Since conventional and high resolution karyotypes were normal, this patient was tested for cryptic telomeric rearrangements by using the recently developed fluorescent genotyping-based technology. The mat UPD17 segment...

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Source

Identifiers

PMID: 11499677
DOI: 10.1007/s004390100522

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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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