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

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 retinoblasto...

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Bibliographic Details
Published inAmerican journal of human genetics Vol. 54; no. 2; pp. 274 - 281
Main Authors NAUMOVA, A, HANSEN, M, WANG, M, SAPIENZA, C, STRONG, L, JONES, P. A, HADJISTILIANOU, D, MASTRANGELO, D, GRIEGEL, S, RAJEWSKY, M. F, SHIELDS, J, DONOSO, L
Format Journal Article
LanguageEnglish
Published Chicago, IL University of Chicago Press 01.02.1994
Subjects
ANEUPLOIDY
BASIC BIOLOGICAL SCIENCES
Biological and medical sciences
BODY
BODY AREAS
chromosome 13
chromosome 6
Chromosome Deletion
CHROMOSOME LOSSES
Chromosomes, Human, Pair 13
Chromosomes, Human, Pair 6
DISEASES
duplication
EYES
FACE
Female
genomic imprinting
HEAD
Heterozygote
Humans
LOSSES
Male
man
Medical sciences
NEOPLASMS
Ophthalmology
ORGANS
Pedigree
PLOIDY
RETINA
retinoblastoma
Retinoblastoma - genetics
SENSE ORGANS 550400 > Genetics
Tumors and pseudotumors of the eye, orbit, eyelid, lacrimal apparatus
Chromosomal aberration
Human
Heterozygozity
Nervous system diseases
Retinopathy
Genetic inheritance
Maternal origin
Family study
Loss
Malignant tumor
Abnormal C6 chromosome
Isochromosome
Genomic imprinting
Paternal origin
Eye disease
Abnormal chromosome
D13-Chromosome
Retinoblastoma
Child
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Summary: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.
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ISSN:0002-9297
1537-6605