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Article

A case of apparent trisomy 21 without the Down's syndrome phenotype.

Journal of medical genetics - 1 Jul 1997

Avramopoulos D, Kennerknecht I, Barbi G, Eckert D, Delabar J M, Maunoury C, Hallberg A, Petersen M B

Abstract excerpt

We describe a case of apparent trisomy 21 that does not fulfill the criteria for the clinical diagnosis of Down's syndrome (DS). Our patient was subjected to karyotype analysis and found to have full, non-mosaic trisomy 21 in both blood lymphocytes and skin fibroblasts, while examination of the term placenta, which was performed earlier in the course of a different study, had shown mosaicism (73%) for trisomy 21....

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Identifiers

PMID: 9222973
DOI: 10.1136/jmg.34.7.597
PMCID: PMC1051005

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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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