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PMID: 8304344 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S.

Concordance between parental origin of chromosome 13q loss and chromosome 6p duplication in sporadic retinoblastoma.

American journal of human genetics ·Vol. 54 ·No. 2 ·1994-02-00 ·Pages 274-81

Naumova A, Hansen M, Strong L, Jones PA, Hadjistilianou D, Mastrangelo D, Griegel S, Rajewsky MF, Shields J, Donoso L

Abstract

Two hypotheses are capable of explaining nonrandom loss of one parent's alleles at tumor suppressor loci in sporadic cases of several pediatric cancers, including retinoblastoma--namely, preferential germ-line mutation or chromosome imprinting. We have examined 74 cases of sporadic retinoblastoma for tumors in which at least two genetic events--loss of heterozygosity for chromosome 13q markers and formation of an isochromosome 6p--have occurred. Sixteen cases were found to contain both events. In 13 of 16 such tumors, the chromosomes 13q that were lost and chromosomes 6p that were duplicated are derived from the same parent. These data may be explained within the framework of the genome imprinting model but are not predicted by preferential germ-line mutation.

MeSH Terms
Chromosome Deletion Chromosomes, Human, Pair 13 Chromosomes, Human, Pair 6 Female Heterozygote Humans Male Pedigree Retinoblastoma/genetics
Authors & Affiliations
10 authors, click to expand affiliations / ORCID
Naumova A
Department of Medicine, University of California at San Diego, La Jolla.
Hansen M
Strong L
Jones P A
Hadjistilianou D
Mastrangelo D
Griegel S
Rajewsky M F
Shields J
Donoso L
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Article Info
Journal
American journal of human genetics
Abbr.
Am J Hum Genet
ISSN
0002-9297
Published
1994-02-00
Pages
274-81
Language
English
Region
United States
NLM ID
0370475
PMCID
PMC1918152
Subset
IM
Grants
NCI NIH HHS · CA50331 · United States
External Links
PubMed source PMC Full Text View journal details
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