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

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...

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Bibliographic Details
Published inNeurology Vol. 57; no. 1; p. 141
Main Authors Riley, D, Wiznitzer, M, Schwartz, S, Zinn, A B
Format Journal Article
LanguageEnglish
Published United States 10.07.2001
Subjects
Brain - pathology
Child
Chromosome Mapping
Chromosomes, Human, Pair 13 - genetics
Cognition Disorders - complications
Cytogenetic Analysis
Gene Deletion
Hepatolenticular Degeneration - complications
Hepatolenticular Degeneration - genetics
Humans
Magnetic Resonance Imaging
Male
Mutation
Retinal Neoplasms - complications
Retinal Neoplasms - genetics
Retinoblastoma - complications
Retinoblastoma - genetics
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Summary: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 retinoblastoma and Wilson disease was the consequence of an acquired somatic mutation at the retinoblastoma locus and an inherited mutation at the Wilson disease locus of the maternally derived chromosome 13, superimposed on the hemizygosity associated with the paternally derived deletion.
ISSN:0028-3878
1526-632X
DOI:10.1212/WNL.57.1.141