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Literature DB >> 7189644

Further observations on a 13qXp translocation associated with retinoblastoma.

W W Nichols, R C Miller, M Sobel, E Hoffman, R S Sparkes, T Mohandas, I Veomett, J R Davis.

Abstract

In a patient with a 13qXp translocation and retinoblastoma the band associated with retinoblastoma (13q14) was clearly translocated intact to the X chromosome rather than being the breakpoint of the translocation. Genetic inactivation of the derivative X chromosome shown by late labeling and cell hybridization techniques in the predominance of cells indicated a functional monosomy for this segment as the most likely predisposing factor in producing retinoblastoma.

Entities: Disease Species

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Year: 1980 PMID： 7189644 DOI： 10.1016/0002-9394(80)90276-7

Source DB: PubMed Journal: Am J Ophthalmol ISSN： 0002-9394 Impact factor: 5.258

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Cited

15 in total

1. Bilateral retinoblastoma in a male patient with an X; 13 translocation: evidence for silencing of the RB1 gene by the spreading of X inactivation.

Authors: C Jones; C Booth; D Rita; L Jazmines; B Brandt; A Newlan; B Horsthemke
Journal: Am J Hum Genet Date: 1997-06 Impact factor: 11.025

2. History and present status of human chromosome studies.

Authors: J H Tjio; W W Nichols
Journal: In Vitro Cell Dev Biol Date: 1985-06

3. Different patterns of X chromosome inactivity in lymphocytes and fibroblasts of a human balanced X;autosome translocation.

Authors: B Hellkuhl; A de la Chapelle; K H Grzeschik
Journal: Hum Genet Date: 1982 Impact factor: 4.132

4. DNA replication and inactivation patterns in structural abnormality of sex chromosomes. I.X-A translocations, rings, fragments, isochromosomes, and pseudo-isodicentrics.

Authors: M Camargo; J Cervenka
Journal: Hum Genet Date: 1984 Impact factor: 4.132

10. Retinoblastoma in a boy with a de novo mutation of a 13/18 translocation: the assumption that the retinoblastoma locus is at 13q141, particularly at the distal portion of it.

Authors: T Motegi; M Komatsu; Y Nakazato; M Ohuchi; K Minoda
Journal: Hum Genet Date: 1982 Impact factor: 4.132

Further observations on a 13qXp translocation associated with retinoblastoma.

1. Bilateral retinoblastoma in a male patient with an X; 13 translocation: evidence for silencing of the RB1 gene by the spreading of X inactivation.

2. History and present status of human chromosome studies.

3. Different patterns of X chromosome inactivity in lymphocytes and fibroblasts of a human balanced X;autosome translocation.

4. DNA replication and inactivation patterns in structural abnormality of sex chromosomes. I.X-A translocations, rings, fragments, isochromosomes, and pseudo-isodicentrics.

5. X-autosome translocation with a breakpoint in Xq22 in a fertile woman and her 47,XXX infertile daughter.

6. Lymphocyte chromosome survey in 42 patients with retinoblastoma: effort to detect 13q14 deletion mosaicism.

7. Genetic evidence for the inactivation of a human autosomal locus attached to an inactive X chromosome.

8. Location of the retinoblastoma susceptibility gene(s) and the human esterase D locus.

9. X-autosome translocations: cytogenetic characteristics and their consequences.

10. Retinoblastoma in a boy with a de novo mutation of a 13/18 translocation: the assumption that the retinoblastoma locus is at 13q141, particularly at the distal portion of it.