Clinical and molecular evaluation of four patients with partial duplications of the long arm of chromosome 18.

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Article

Clinical and molecular evaluation of four patients with partial duplications of the long arm of chromosome 18.

American journal of human genetics - 1 Dec 1993

Mewar R, Kline A D, Harrison W, Rojas K, Greenberg F, Overhauser J

Abstract excerpt

Four individuals with partial duplications of the long arm of chromosome 18 were analyzed at the clinical, cytogenetic, and molecular levels. Two of the individuals had duplications of the long arm from 18q21.1-qter because of inheritance of an unbalanced translocation. Both of these individuals...

Topics

Adolescent
Animals
Biotin
Blotting, Southern
CHO Cells
Child
Chromosome Aberrations
Chromosome Mapping
Chromosomes, Human, Pair 18
Cricetinae
DNA
DNA Probes
Female
Humans
Hybrid Cells
Infant
Infant, Newborn
Karyotyping

Source

Open in PubMed Open full text

Identifiers

PMID: 8250043
PMCID: PMC1682493

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8250043-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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