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Article

The consequences of chromosome imbalance.

American journal of medical genetics. Supplement - 1 Jan 1990

Epstein C J

Abstract excerpt

Review of the clinical cytogenetic literature provides compelling evidence for a specific relationship between imbalance of particular chromosomes or chromosomal regions and the appearance of defined patterns of phenotypic abnormalities. In many instances, detailed phenotypic mapping has made it...

Topics

Aneuploidy
Chromosome Mapping
Chromosomes, Human, Pair 21
Down Syndrome
Humans
Phenotype

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 2149968
DOI: 10.1002/ajmg.1320370706

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-2149968-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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