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

Journal Article · · American Journal of Human Genetics; (United States)
OSTI ID:7160002
;  [1]; ;  [2];  [3]; ;  [4]; ;  [5];  [6]
  1. Univ. of California-San Diego, La Jolla, CA (United States)
  2. M.D. Anderson Cancer Center, Houston, TX (United States)
  3. Univ. of Southern California, Los Angeles, CA (United States)
  4. Univ. of Siena (Italy)
  5. Univ. of Essen Medical School, Essen (Germany)
  6. Wills Eye Hospital, Philadelphia, PA (United States); and others
+ Show Author Affiliations
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. The authors 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. 39 refs., 3 figs., 5 tabs.
OSTI ID:
7160002
Journal Information:
American Journal of Human Genetics; (United States), Journal Name: American Journal of Human Genetics; (United States) Vol. 54:2; ISSN AJHGAG; ISSN 0002-9297
Country of Publication:
United States
Language:
English

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Related Subjects

550400* -- Genetics
59 BASIC BIOLOGICAL SCIENCES
ANEUPLOIDY
BODY
BODY AREAS
CHROMOSOME LOSSES
DISEASES
EYES
FACE
HEAD
LOSSES
NEOPLASMS
ORGANS
PLOIDY
RETINA
SENSE ORGANS