Nonrandom chromosomal changes in retinoblastomas. 1986

H E Pogosianz, and L E Kuznetsova

The analysis of the karyotype in 76 retinoblastomas (24 our cases and 52 described in the literature) has revealed nonrandom changes of Iq, 6p, 13, 16 and the sex chromosomes. Complete or partial trisomy Iq was observed in 44 out of 76 tumours. Tetra-or trisomy 6p was found in 35 and 6 cases respectively. Chromosome 13 monosomy or its long arm deletion was described in 11 tumours. Monosomy 16 and loss of the X or Y--in 18 and 12 cases. The specific feature of retinoblastoma karyotype is presence (along with two normal homologues of the pair 6) of the marker chromosome i (6p). Possible causes of unexpectedly rare abnormalities of chromosome 13 in retinoblastoma cells were discussed in the light of well known data on predisposing role of constitutional deletion 13q14, and recent molecular genetic studies showing the significance of recessive tumour genes in carcinogenesis. The cytological signs of gene amplification (HSRs, DMs) were revealed in few retinoblastomas. However, the recent data on N-myc gene amplification and its elevated expression in several retinoblastomas indicate that amplification of the oncogene(s) might be involved in the genesis of this tumour. Further studies are needed to understand the correlative role of specific chromosome rearrangements, gene(s) amplification and action of recessive rb gene, located at 13q14 in initiation and progression of retinoblastoma.

UI MeSH Term Description Entries
D007223 Infant A child between 1 and 23 months of age. Infants
D007621 Karyotyping Mapping of the KARYOTYPE of a cell. Karyotype Analysis Methods,Analysis Method, Karyotype,Analysis Methods, Karyotype,Karyotype Analysis Method,Karyotypings,Method, Karyotype Analysis,Methods, Karyotype Analysis
D008297 Male Males
D009006 Monosomy The condition in which one chromosome of a pair is missing. In a normally diploid cell it is represented symbolically as 2N-1. Monosomies
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D002869 Chromosome Aberrations Abnormal number or structure of chromosomes. Chromosome aberrations may result in CHROMOSOME DISORDERS. Autosome Abnormalities,Cytogenetic Aberrations,Abnormalities, Autosome,Abnormalities, Chromosomal,Abnormalities, Chromosome,Chromosomal Aberrations,Chromosome Abnormalities,Cytogenetic Abnormalities,Aberration, Chromosomal,Aberration, Chromosome,Aberration, Cytogenetic,Aberrations, Chromosomal,Aberrations, Chromosome,Aberrations, Cytogenetic,Abnormalities, Cytogenetic,Abnormality, Autosome,Abnormality, Chromosomal,Abnormality, Chromosome,Abnormality, Cytogenetic,Autosome Abnormality,Chromosomal Aberration,Chromosomal Abnormalities,Chromosomal Abnormality,Chromosome Aberration,Chromosome Abnormality,Cytogenetic Aberration,Cytogenetic Abnormality
D002871 Chromosome Banding Staining of bands, or chromosome segments, allowing the precise identification of individual chromosomes or parts of chromosomes. Applications include the determination of chromosome rearrangements in malformation syndromes and cancer, the chemistry of chromosome segments, chromosome changes during evolution, and, in conjunction with cell hybridization studies, chromosome mapping. Banding, Chromosome,Bandings, Chromosome,Chromosome Bandings
D002872 Chromosome Deletion Actual loss of portion of a chromosome. Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D002900 Chromosomes, Human, 1-3 The large, metacentric human chromosomes, called group A in the human chromosome classification. This group consists of chromosome pairs 1, 2, and 3. Chromosomes A,Group A Chromosomes,Chromosome, Group A,Chromosomes, Group A,Group A Chromosome
D002901 Chromosomes, Human, 13-15 The medium-sized, acrocentric human chromosomes, called group D in the human chromosome classification. This group consists of chromosome pairs 13, 14, and 15. Chromosomes D,Group D Chromosomes,Chromosome, Group D,Chromosomes, Group D,Group D Chromosome

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