Chromosome Studies in Patients With Retinoblastoma

The Genetics of Retinoblastoma, Revisited

“…Because one of the more striking unusual observations concerns the preferential retention of paternal chromosome 13q alleles in tumor tissue from bilateral sporadic cases, we have made an extensive compilation of sex and laterality of proven sporadic cases (see Material and Methods) of retinoblastoma. Bech and Jensen 1961;Lele et al 1963; Paterson and Charteris 1965;Kodilinye 1967;Leelawongs and Regan 1968;Nielsen and Goldschmidt 1968;Pruett and Atkins 1969;Gey 1970;Taylor 1970;Barry and Mullaney 1971;Jensen and Miller 1971;Knudson 1971;Sorsby 1972;Orye et al 1974;Devesa 1975;Francois et al 1975;Lennox et al 1975;BenEzra and Chirambo 1976;Francke and Kung 1976;Matsunaga and Ogyu 1976;Wilson et al 1977;Howard et al 1978;Ozawa et al 1978;Waldbaum et al 1978;Kock and Naeser 1979;deGrouchy et al 1980;Sinniah et al 1980;Akazawa et al 1981;Motegi 1981Motegi , 1982Motegi , 1987Rivera et al 1981;Johnson et al 1982;Motegi et al 1982Motegi et al , 1983Suckling et al 1982;Erwenne et al 1983;Liberfarb et al 1984;Motegi and Minod...…”

The Genetics of Retinoblastoma, Revisited

“…Because one of the more striking unusual observations concerns the preferential retention of paternal chromosome 13q alleles in tumor tissue from bilateral sporadic cases, we have made an extensive compilation of sex and laterality of proven sporadic cases (see Material and Methods) of retinoblastoma. Bech and Jensen 1961;Lele et al 1963; Paterson and Charteris 1965;Kodilinye 1967;Leelawongs and Regan 1968;Nielsen and Goldschmidt 1968;Pruett and Atkins 1969;Gey 1970;Taylor 1970;Barry and Mullaney 1971;Jensen and Miller 1971;Knudson 1971;Sorsby 1972;Orye et al 1974;Devesa 1975;Francois et al 1975;Lennox et al 1975;BenEzra and Chirambo 1976;Francke and Kung 1976;Matsunaga and Ogyu 1976;Wilson et al 1977;Howard et al 1978;Ozawa et al 1978;Waldbaum et al 1978;Kock and Naeser 1979;deGrouchy et al 1980;Sinniah et al 1980;Akazawa et al 1981;Motegi 1981Motegi , 1982Motegi , 1987Rivera et al 1981;Johnson et al 1982;Motegi et al 1982Motegi et al , 1983Suckling et al 1982;Erwenne et al 1983;Liberfarb et al 1984;Motegi and Minod...…”

Retinoblastoma: An epidemiological study (survey and review)

“…At the present time there is no definitive way of differentiating hereditary from nonhereditary retinoblastoma. Chromosome analysis of both types of patients has not demonstrated an obvious chromosome abnormality (Pruett and Atkins, 1969). However, a few cases of retinoblastoma have been reported in association with deletion D syndrome (Wilson et al, 1969).…”

One hit, two hits, three hits, more? Genomic changes in the development of retinoblastoma

“…Constitutional karyotypes of retinoblastoma patients are usually normal, but occasional 13q deletions or translocations are evident (Lele et al, 1963;Pruett and Atkins, 1969;Wilson et al, 1969;Czeizel et al, 1974;Rao et al, 1975;Yunis and Ramsay, 1978;Johnson et al, 1982). Gross constitutive deletions are usually associated with growth and mental retardation and other anomalies, in addition to retinoblastoma.…”

“…The spectrum of these rearrangements has been reviewed (Turleau et al, 1985). These early studies (reviewed in Pruett and Atkins, 1969;Czeizel et al, 1974;Rao et al, 1975;Knudson et al, 1976) pointed toward the locus of the autosomal dominant trait predisposing to retinoblastoma (Howard et al, 1974;Francke, 1976;Wilson et al, 1977;Knight et al, 1978;Yunis and Ramsay, 1978;Sparkes et al, 1979Sparkes et al, , 1980Sparkes et al, , 1983. Family studies linked retinoblastoma to the polymorphic esterase D gene Sparkes et al, 1983), which was localized to 13q14 (Sparkes et al, 1980).…”

The Genetics of Retinoblastoma, Revisited

“…Because one of the more striking unusual observations concerns the preferential retention of paternal chromosome 13q alleles in tumor tissue from bilateral sporadic cases, we have made an extensive compilation of sex and laterality of proven sporadic cases (see Material and Methods) of retinoblastoma. Bech and Jensen 1961;Lele et al 1963; Paterson and Charteris 1965;Kodilinye 1967;Leelawongs and Regan 1968;Nielsen and Goldschmidt 1968;Pruett and Atkins 1969;Gey 1970;Taylor 1970;Barry and Mullaney 1971;Jensen and Miller 1971;Knudson 1971;Sorsby 1972;Orye et al 1974;Devesa 1975;Francois et al 1975;Lennox et al 1975;BenEzra and Chirambo 1976;Francke and Kung 1976;Matsunaga and Ogyu 1976;Wilson et al 1977;Howard et al 1978;Ozawa et al 1978;Waldbaum et al 1978;Kock and Naeser 1979;deGrouchy et al 1980;Sinniah et al 1980;Akazawa et al 1981;Motegi 1981Motegi , 1982Motegi , 1987Rivera et al 1981;Johnson et al 1982;Motegi et al 1982Motegi et al , 1983Suckling et al 1982;Erwenne et al 1983;Liberfarb et al 1984;Motegi and Minod...…”

Retinoblastoma: An epidemiological study (survey and review)

“…At the present time there is no definitive way of differentiating hereditary from nonhereditary retinoblastoma. Chromosome analysis of both types of patients has not demonstrated an obvious chromosome abnormality (Pruett and Atkins, 1969). However, a few cases of retinoblastoma have been reported in association with deletion D syndrome (Wilson et al, 1969).…”

One hit, two hits, three hits, more? Genomic changes in the development of retinoblastoma

“…Constitutional karyotypes of retinoblastoma patients are usually normal, but occasional 13q deletions or translocations are evident (Lele et al, 1963;Pruett and Atkins, 1969;Wilson et al, 1969;Czeizel et al, 1974;Rao et al, 1975;Yunis and Ramsay, 1978;Johnson et al, 1982). Gross constitutive deletions are usually associated with growth and mental retardation and other anomalies, in addition to retinoblastoma.…”

“…The spectrum of these rearrangements has been reviewed (Turleau et al, 1985). These early studies (reviewed in Pruett and Atkins, 1969;Czeizel et al, 1974;Rao et al, 1975;Knudson et al, 1976) pointed toward the locus of the autosomal dominant trait predisposing to retinoblastoma (Howard et al, 1974;Francke, 1976;Wilson et al, 1977;Knight et al, 1978;Yunis and Ramsay, 1978;Sparkes et al, 1979Sparkes et al, , 1980Sparkes et al, , 1983. Family studies linked retinoblastoma to the polymorphic esterase D gene Sparkes et al, 1983), which was localized to 13q14 (Sparkes et al, 1980).…”

The Genetics of Retinoblastoma, Revisited

“…Because one of the more striking unusual observations concerns the preferential retention of paternal chromosome 13q alleles in tumor tissue from bilateral sporadic cases, we have made an extensive compilation of sex and laterality of proven sporadic cases (see Material and Methods) of retinoblastoma. Bech and Jensen 1961;Lele et al 1963; Paterson and Charteris 1965;Kodilinye 1967;Leelawongs and Regan 1968;Nielsen and Goldschmidt 1968;Pruett and Atkins 1969;Gey 1970;Taylor 1970;Barry and Mullaney 1971;Jensen and Miller 1971;Knudson 1971;Sorsby 1972;Orye et al 1974;Devesa 1975;Francois et al 1975;Lennox et al 1975;BenEzra and Chirambo 1976;Francke and Kung 1976;Matsunaga and Ogyu 1976;Wilson et al 1977;Howard et al 1978;Ozawa et al 1978;Waldbaum et al 1978;Kock and Naeser 1979;deGrouchy et al 1980;Sinniah et al 1980;Akazawa et al 1981;Motegi 1981Motegi , 1982Motegi , 1987Rivera et al 1981;Johnson et al 1982;Motegi et al 1982Motegi et al , 1983Suckling et al 1982;Erwenne et al 1983;Liberfarb et al 1984;Motegi and Minod...…”

Retinoblastoma: An epidemiological study (survey and review)

“…At the present time there is no definitive way of differentiating hereditary from nonhereditary retinoblastoma. Chromosome analysis of both types of patients has not demonstrated an obvious chromosome abnormality (Pruett and Atkins, 1969). However, a few cases of retinoblastoma have been reported in association with deletion D syndrome (Wilson et al, 1969).…”

One hit, two hits, three hits, more? Genomic changes in the development of retinoblastoma

“…Constitutional karyotypes of retinoblastoma patients are usually normal, but occasional 13q deletions or translocations are evident (Lele et al, 1963;Pruett and Atkins, 1969;Wilson et al, 1969;Czeizel et al, 1974;Rao et al, 1975;Yunis and Ramsay, 1978;Johnson et al, 1982). Gross constitutive deletions are usually associated with growth and mental retardation and other anomalies, in addition to retinoblastoma.…”

“…The spectrum of these rearrangements has been reviewed (Turleau et al, 1985). These early studies (reviewed in Pruett and Atkins, 1969;Czeizel et al, 1974;Rao et al, 1975;Knudson et al, 1976) pointed toward the locus of the autosomal dominant trait predisposing to retinoblastoma (Howard et al, 1974;Francke, 1976;Wilson et al, 1977;Knight et al, 1978;Yunis and Ramsay, 1978;Sparkes et al, 1979Sparkes et al, , 1980Sparkes et al, , 1983. Family studies linked retinoblastoma to the polymorphic esterase D gene Sparkes et al, 1983), which was localized to 13q14 (Sparkes et al, 1980).…”