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

• Published in: American 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
• Language: English
• 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

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...