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Article

Cytogenetic and molecular analysis of a de novo tandem duplication of chromosome 21.

Human genetics - 1 Dec 1991

Blouin J L, Aurias A, Créau-Goldberg N, Apiou F, Alcaide-Loridan C, Bruel A, Prieur M, Kraus J, Delabar J M, Sinet P M

Abstract excerpt

We have characterised by cytogenetic and molecular analysis a de novo tandem duplication of chromosome 21. High resolution chromosome examination of lymphocytes revealed the following karyotype in 90% of the cells: 46,XY,dir dup (21)(pter----q22.300::q11.205----qter). Of these cells, 10% showed a normal karyotype. Gene dosage of chromosome 21 sequences by a slot blot method indicated that the duplication extends...

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PMID: 1684564
DOI: 10.1007/BF00206066

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

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