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Duplication of the Down syndrome critical region does not predict facial phenotype in a baby with a ring chromosome 21.

Clinical dysmorphology - 1 Oct 2005

Crombez Eric A, Dipple Katrina M, Schimmenti Lisa A, Rao Nagesh

Abstract excerpt

Ring chromosomes represent a rare type of chromosomal anomaly that can lead to multiple malformations. Although rings may occur with any chromosome, ring chromosome 21 is of particular interest due to the association of this chromosome with Down syndrome. Individuals with a ring chromosome 21, containing duplicated material, typically have a phenotype consistent with Down syndrome. We report an infant with a ring...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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PMID: 16155419

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Duplication of the Down syndrome critical region does not predict facial phenotype in a baby with a ring chromosome 21.PMID 16155419Read ↗

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