Abstract
Data for 27 cases of retinoblastoma that developed in patients with 13q- were collected from the literature and analyzed. The distribution of unilateral and bilateral cases of retinoblastoma differed significantly from the expectation that the degree of expressivity does not differ between the retinoblastoma gene and deletion of 13q. The excess of unilateral cases among the patients with 13q-, which could not be accounted by ascertainment bias, was attributed to somewhat lowered carcinogenic potential of deletion of 13q14 as compared with the retinoblastoma gene. It was argued that the retinoblastoma gene is probably not located on 13q, and perhaps 20% or more of the individuals with a deletion of 13q14 would not develop retinoblastoma. The normal allele at the retinoblastoma locus, the haplicon in the segment of 13q14, and the suppressor genes as defined by the host resistance model, may be all concerned, in their function additively and without dominance, with normal differentiation of the embryonic retinal cells.
MeSH Terms
Alleles
Child
Chromosome Deletion
Chromosomes, Human, 13-15
Eye Neoplasms/genetics,pathology
Functional Laterality
Genes
Humans
Phenotype
Retinoblastoma/genetics,pathology
Suppression, Genetic
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
Matsunaga E
References (34)
34 references, click to expand
-
Sporadic bilateral retinoblastoma and 13q- chromosomal deletion.
Med Pediatr Oncol. 1976;2(4):379-85
PMID: 1004381
-
Hereditary retinoblastoma: host resistance and age at onset.
J Natl Cancer Inst. 1979 Oct;63(4):933-9
PMID: 480385
-
Segregation of chromosome 13 in retinoblastoma.
Lancet. 1978 May 6;1(8071):989
PMID: 76915
-
Mutation and cancer: statistical study of retinoblastoma.
Proc Natl Acad Sci U S A. 1971 Apr;68(4):820-3
PMID: 5279523
-
Dq-, Dr and retinoblastoma.
Humangenetik. 1970;10(3):209-17
PMID: 5479429
-
Retinoblastoma and deletion D (14) syndrome.
J Med Genet. 1969 Sep;6(3):322-7
PMID: 5345106
-
Deletion long arm 13.
Hum Genet. 1977 Jul 26;37(3):339-45
PMID: 885554
-
Hereditary retinoblastoma: delayed mutation or host resistance?
Am J Hum Genet. 1978 Jul;30(4):406-24
PMID: 717402
-
Interstital deletion of 13q associated with retinoblastoma and congenital malformations.
Ann Genet. 1979 Jun;22(2):106-7
PMID: 315199
-
Deletion of long arms of chromosome 13.
Humangenetik. 1975;27(3):255-7
PMID: 1150247
-
Retinoblastoma with 13q- chromosomal deletion associated with maternal paracentric inversion of 13q.
Science. 1979 Mar 9;203(4384):1027-9
PMID: 424728
-
Retinoblastoma and D-chromosome deletions.
Am J Hum Genet. 1973 Jan;25(1):57-61
PMID: 4119334
-
Partial deletions and trisomies of chromosome 13; mapping of bands associated with particular malformations.
Clin Genet. 1976 Jun;9(6):593-602
PMID: 1277571
-
Hereditary retinoblastoma: penetrance, expressivity and age of onset.
Hum Genet. 1976 Jul 7;33(1):1-15
PMID: 939555
-
Retinoblastoma and subband deletion of chromosome 13.
Am J Dis Child. 1978 Feb;132(2):161-3
PMID: 626181
-
Retinoblastoma: chromosome banding in patients with heritable tumour.
Lancet. 1973 Sep 1;2(7827):506
PMID: 4125027
-
THE GENETICS OF RETINOBLASTOMA.
Br J Ophthalmol. 1944 Jun;28(6):279-93
PMID: 18170018
-
The 13q- deletion syndrome.
J Med Genet. 1971 Sep;8(3):351-7
PMID: 5097142
-
Chromosomes in retinoblastoma patients.
Clin Genet. 1979 Jun;15(6):505-8
PMID: 466850
-
Partial triplication and deletion of 13q: study of a family presenting with bilateral retinoblastomas.
Clin Genet. 1979 Apr;15(4):332-45
PMID: 436330
-
Chromosomal anomalies in patients with retinoblastoma.
Clin Genet. 1977 Jul;12(1):1-8
PMID: 891004
-
Retinoblastoma in a patient with a 13qXp translocation.
Am J Ophthalmol. 1977 Oct;84(4):548-54
PMID: 910860
-
A (13) terminal deletion, 46 chromosomes. Repository identification no. GM-250.
Cytogenet Cell Genet. 1975;15(1):57-8
PMID: 1183234
-
Retinoblastoma and long arm delection of chromosome 13. Attempts to define the deleted segment.
Clin Genet. 1974;5(5):457-64
PMID: 4854145
-
[Dq-, multiple malformations and retinoblastoma].
Humangenetik. 1970;10(4):362-5
PMID: 5493242
-
Chromosomal deletion and retinoblastoma.
N Engl J Med. 1976 Nov 11;295(20):1120-3
PMID: 980006
-
D-group deletion syndromes and retinoblastoma.
Am J Ophthalmol. 1974 Jan;77(1):40-5
PMID: 4824172
-
[New studies on the genetics of retinoblastoma; glioma retinae].
Z Mensch Vererb Konstitutionsl. 1957;34(2):205-36
PMID: 13531493
-
Chromosome banding patterns in an infant with 13q minus syndrome.
Humangenetik. 1974 Mar 28;21(4):309-14
PMID: 4134627
-
CHROMOSOME DELETION IN A CASE OF RETINOBLASTOMA.
Ann Hum Genet. 1963 Nov;27:171-4
PMID: 14081487
-
Retinoblastoma and chromosome abnormality. Partial deletion of the long arm of chromosome 13.
Arch Ophthalmol. 1974 Dec;92(6):490-3
PMID: 4433268
-
Genetics of retinoblastoma.
Hum Genet. 1979 Nov 1;52(1):1-54
PMID: 393614
-
[A case of bilateral retinoblastoma with monosomy 13 (q12 leads to 114) (author's transl)].
Hum Genet. 1978 Oct 31;44(2):219-26
PMID: 730167
-
Hereditary retinoblastoma: host resistance and second primary tumors.
J Natl Cancer Inst. 1980 Jul;65(1):47-51
PMID: 6930517