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Article

Intrachromosomal triplication for the distal part of chromosome 15q.

American journal of medical genetics. Part A - 15 Jul 2005

Schluth C, Mattei M G, Mignon-Ravix C, Salman S, Alembik Y, Willig J, Ginglinger E, Jeandidier E

Abstract excerpt

We report the case of a boy whose karyotype at birth showed additional material on one chromosome 15. He underwent treatment for unilateral nephroblastoma at 6 years old. At 23 years old, he presented with body asymmetry, facial dysmorphism, arachnodactyly, severe scoliosis, and mental retardation. Molecular cytogenetic analyses of peripheral lymphocytes demonstrated a complex mosaic with three clones. A major...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 15940678
DOI: 10.1002/ajmg.a.30745

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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