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Article

Loss of subtelomeric sequence associated with a terminal inversion duplication of the short arm of chromosome 4.

American journal of medical genetics - 22 Jul 2001

Cotter P D, Kaffe S, Li L, Gershin I F, Hirschhorn K

Abstract excerpt

We report on a 4(1/2)-year-old girl, who presented with multiple minor anomalies consistent with trisomy for 4p. GTG-banding identified a de novo terminal inversion duplication of distal 4p, dup(4)(p16.3p15.3). Fluorescence in situ hybridization (FISH) with a wcp4 probe confirmed the chromosome 4 origin of the additional material. FISH with a 4p subtelomere probe, D4F26, showed no signal on the dup(4) chromosome...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Chromosomes, Human, Pair 4

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Share to In Situ Hybridization, Fluorescence

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Source

Identifiers

PMID: 11471177
DOI: 10.1002/1096-8628(20010722)102:1<76::aid-ajmg1389>3.0.co;2-4

Genes

STS

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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