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Article

Trisomy 6q syndrome: a case with a << de novo >> 6q23 tandem duplication.

Genetic counseling (Geneva, Switzerland) - 1 Jan 2001

Causio F, Fischetto R, Carnevale F, Pansini A, Rocchi M

Abstract excerpt

In this study, we report the combined use of whole and partial chromosome 6 painting probe and YACS probes to define the unbalanced region of a de novo 6q+ marker chromosome. A male patient with peculiar features of << distal 6q trisomy syndrome >> showed a direct duplication of 6q23 region. Comparing the phenotype of this child with the phenotype of other << de novo >> partial 6q trisomy, we conclude that band...

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

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Source

Identifiers

PMID: 11491309

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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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