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Article

Trisomy 17p10-p12 resulting from a supernumerary marker chromosome derived from chromosome 17: molecular analysis and delineation of the phenotype.

Clinical genetics - 1 Nov 2001

Stankiewicz P, Parka S S, Holder S E, Waters C S, Palmer R W, Berend S A, Shaffer L G, Potocki L, Lupski J R

Abstract excerpt

We report a 5-year-old boy with a small de novo marker chromosome derived from the proximal short arm of chromosome 17. His clinical features include hypotonia, global developmental delay, oval face with large nose and prominent ears, and ligamentous laxity of the fingers. Magnetic resonance imaging of the brain demonstrated mildly delayed myelination. G-band chromosome analysis revealed mosaicism for a small...

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Source

Identifiers

PMID: 11903333
DOI: 10.1034/j.1399-0004.2001.600503.x

Genes

PMP22

Provenance

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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