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Article

Stable ring chromosome 21: molecular and clinical definition of the lesion.

American journal of medical genetics - 1 Jan 1992

Falik-Borenstein T C, Pribyl T M, Pulst S M, Van Dyke D L, Weiss L, Chu M L, Kraus J, Marshak D, Korenberg J R

Abstract excerpt

Ring chromosome 21 results in deletions of chromosome 21. We report on a cytogenetic and molecular analysis of a 4-generation family segregating a stable ring chromosome 21 in 4 relatives. To investigate the molecular structure of the ring chromosome, we have analyzed the DNAs of the transmitted ring in a mother and her daughter. The daughter presented at the age of 2 years with severe growth retardation and...

Topics

Adult
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 21
Collagen
DNA
Female
Growth Disorders
Humans
Male
Microcephaly
Middle Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Phenotype

Ring Chromosomes

S100 Proteins

Source

Identifiers

PMID: 1308361
DOI: 10.1002/ajmg.1320420107

Genes

CBS

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1308361-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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