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Article

Small marker chromosomes in two patients with segmental aneusomy for proximal 17p.

Human genetics - 1 Jun 2004

Shaw Christine J, Stankiewicz Pawel, Bien-Willner Gabriel, Bello Scott C, Shaw Chad A, Carrera Marta, Perez Jurado Luis, Estivill Xavier, Lupski James R

Abstract excerpt

We report a nine-year-old girl (patient 1934) and a five-year-old boy (patient 2170) with small, de novo supernumerary marker chromosomes (SMCs) derived from proximal 17p. The clinical features of patient 1934 include developmental delay, triangular face, prominent forehead, low set ears, dental...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chromosomes, Human, Pair 17

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Share to In Situ Hybridization, Fluorescence

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Source

Identifiers

PMID: 15098121
DOI: 10.1007/s00439-004-1119-5

Genes

SMS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15098121-2026-09-02.1. Manifest publication-graph-cohort-2026-09-02.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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