A 13-year-old boy with cognitive impairment, retinoblastoma, and Wilson disease.

doi:10.1212/wnl.57.1.141

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Article

A 13-year-old boy with cognitive impairment, retinoblastoma, and Wilson disease.

Neurology - 10 Jul 2001

Riley D, Wiznitzer M, Schwartz S, Zinn A B

Abstract excerpt

A developmentally delayed child manifested retinoblastoma at age 4 years and Wilson disease at age 11, a previously unreported association. Cytogenetic and molecular analysis showed an interstitial deletion in the long arm of the paternally derived homologue of chromosome 13 (13q14.2-13q22.2), which encompasses the retinoblastoma and Wilson disease loci. The authors postulate that the co-occurrence of...

Topics

Brain
Child
Chromosome Mapping
Chromosomes, Human, Pair 13
Cognition Disorders
Cytogenetic Analysis
Gene Deletion
Hepatolenticular Degeneration
Humans
Magnetic Resonance Imaging
Male
Mutation
Retinal Neoplasms
Retinoblastoma

Source

Open in PubMed

Identifiers

PMID: 11445646
DOI: 10.1212/wnl.57.1.141

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