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Article

Pure 6p22-pter trisomic patient: refined FISH characterization and genotype-phenotype correlation.

American journal of medical genetics - 15 Feb 2002

Giardino D, Finelli P, Caufin D, Gottardi G, Lo Vasco R, Turolla L, Larizza L

Abstract excerpt

First described in 1971, partial trisomy 6p is uncommon and generally secondary to a familial reciprocal translocation. The proximal breakpoint of the reported cases varies from p11 to p25. We here report on a patient with moderate mental retardation, craniofacial and pigmentary anomalies, proteinuria, and hyperglycemia who was found to have a mosaic karyotype 46,X,add(Y)(q12)/45,X. Fluorescence in situ...

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Share to Chromosomes, Human, Pair 6
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11857547
DOI: 10.1002/ajmg.10225

Provenance

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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