Retinoblastoma with 13q- Chromosomal Deletion Associated with Maternal Paracentric Inversion of 13q

Rs, Sparkes; Müller, Herbert; Klisak, Ivana

doi:10.1126/science.424728

Cited by 78 publications

(22 citation statements)

References 8 publications

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“…Two of the insertions were originally reported as inversions (Allderdice et al 1980b;Kelly et al 1979) but were later re-interpreted as insertions by the authors themselves (Allderdice et al 1983;Wyandt et al 1980). Two of the paracentric inversions (Valcfircel et al 1983;Sparkes et al 1979) included in Table 4 have been re-interpreted as insertions by other authors (Valcfircel et al 1983by Callen et al 1985Sparkes et al 1979by Hoegerman 1979. In both cases, the re-interpretation of the parental chromosome rearrangement as an insertion explains the karyotype of the offspring more convincingly.…”

Section: Individuals Referred Because Of An Unbalanced Karyotype In Tmentioning

confidence: 86%

Paracentric inversions: a review

Madan

1995

Hum Genet

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This review of paracentric inversions in man includes what we know of the behaviour and reproductive consequences of paracentric inversions from other species. Observations of naturally occurring inversions in several species of plants and animals and results of experiments with mutagenically induced inversions in the mouse are discussed. From a review of 184 cases, it is concluded that most of the paracentric inversions in man are harmless and that the risk of heterozygotes having a child with an unbalanced karyotype is low. However, in some cases, it is difficult, if not impossible, to distinguish between a paracentric inversion and a paracentric insertion, the risk in the latter case being about 15%. Caution is also necessary in interpreting the results of prenatal diagnosis for heterozygotes of paracentric inversions, because of the possibility of a variety of unpredictable unbalanced chromosome products.

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Section: Individuals Referred Because Of An Unbalanced Karyotype In Tmentioning

confidence: 86%

Paracentric inversions: a review

Madan

1995

Hum Genet

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“…In both cases a and b, the chromosome with the inversion is indistinguishable from the chromosome with the insertion. Sparkes et al [1979] 13(q14q22), mother del (13)(q14q22)…”

Section: To the Editormentioning

confidence: 99%

Reproductive risks for paracentric inversion heterozygotes: Inversion or insertion? That is the question

Madan

Nieuwint

2001

Am. J. Med. Genet.

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“…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).…”

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confidence: 95%

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

Corson

Gallie

2007

Genes Chromosomes & Cancer

240

215

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The childhood eye cancer retinoblastoma is initiated by the loss of both alleles of the prototypic tumor suppressor gene, RB1. However, a large number of cytogenetic and comparative genomic hybridization (CGH) studies have shown that these M1 and M2 mutational events--although necessary for initiation--are not the only genomic changes in retinoblastoma. Some of these subsequent changes, which we have termed M3 to Mn, are likely crucial for tumor progression not only in retinoblastoma but also in other cancers. Moreover, genes showing genomic change in cancer are more stable markers and, therefore, possible therapeutic targets than genes simply differentially expressed. In this review, we provide the first comprehensive summary of the genomic evidence implicating gain of 1q, 2p, 6p, and 13q, and loss of 16q in retinoblastoma oncogenesis, including karyotype, CGH, and microarray CGH data. We discuss the search for candidate oncogenes and tumor suppressor genes within these regions, including the candidates (KIF14, MDM4, MYCN, E2F3, DEK, CDH11, and others), plus associations between genomic changes and clinical parameters. We also review studies of other regions of the retinoblastoma genome, the epigenetic changes of aberrant methylation of MGMT, RASSF1A, CASP8, and MLH1, and the roles microRNAs might play in this cancer. Although many candidate genes have yet to be functionally validated in retinoblastoma, work in this field lays out a molecular cytogenetic pathway of retinoblastoma development. Candidate cancer genes carry diagnostic, prognostic, and therapeutic implications beyond retinoblastoma.

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Retinoblastoma with 13q- Chromosomal Deletion Associated with Maternal Paracentric Inversion of 13q

Abstract: A girl with sporadic unilateral retinoblastoma and mental retardation has an interstitial deletion in the long arm of chromosome 13. Her mother has a paracentric inversion of one chromosome 13; the deleted chromosome 13 in the daughter is derived from the mother's normal chromosome 13.

Cited by 78 publications

References 8 publications

Paracentric inversions: a review

Paracentric inversions: a review

Reproductive risks for paracentric inversion heterozygotes: Inversion or insertion? That is the question

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

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