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Article

Small familial supernumerary ring chromosome 2: FISH characterization and genotype-phenotype correlation.

American journal of medical genetics - 15 Aug 2002

Giardino Daniela, Finelli Palma, Russo Silvia, Gottardi Giulietta, Rodeschini Ornella, Atza Maria Gabriella, Natacci Federica, Larizza Lidia

Abstract excerpt

A child and his mother were found to be mosaic for a small supernumerary marker chromosome (SMC) that was identified and characterized by means of fluorescent in situ hybridization. The marker chromosome was derived from the pericentromeric region of chromosome 2; the involvement of proximal 2q was determined by YAC probes. The proband was referred because of psychotic illness and mild mental retardation, whereas...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 12210331
DOI: 10.1002/ajmg.10537

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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