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Article

Duplication 20p identified via fluorescent in situ hybridization.

American journal of medical genetics - 1 Apr 1994

LeChien K A, McPherson E, Estop A M

Abstract excerpt

A 3-year-old girl is reported with dup (20p) resulting from 3:1 segregation of a de novo t(20;21). The proposita presented with minor anomalies, developmental delay, a clinical phenotype suggestive of 20p trisomy, and a karyotype with a 21p+ and an additional small marker chromosome. Conventional...

Topics

Child, Preschool
Chromosome Banding
Chromosomes, Human, Pair 20
Chromosomes, Human, Pair 21
Developmental Disabilities
Female
Humans
In Situ Hybridization, Fluorescence
Karyotyping
Multigene Family
Phenotype

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Identifiers

PMID: 7516625
DOI: 10.1002/ajmg.1320500210

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-7516625-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

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

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