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Article

Clinical, cytogenetic, and molecular evaluation of a patient with partial trisomy 21 (21q11-q22) lacking the classical Down syndrome phenotype.

American journal of medical genetics. Supplement - 1 Jan 1990

Williams C A, Frias J L, McCormick M K, Antonarakis S E, Cantu E S

Abstract excerpt

The clinical, cytogenetic, and molecular studies of an individual are presented here for the purpose of further characterizing what regions of chromosome 21q are essential for expression of the typical Down syndrome phenotype. This individual had a de novo, unbalanced translocation chromosome interpreted as: 45,XX,t(18;dup[21q]). Physical examination revealed mild manifestations, but not the typical phenotype of...

Topics

Adult
Chromosome Mapping
Chromosomes, Human, Pair 21
Down Syndrome
Female
Humans
Karyotyping
Phenotype

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 2149936
DOI: 10.1002/ajmg.1320370722

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2149936-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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