Literature DB >> 424728

Retinoblastoma with 13q- chromosomal deletion associated with maternal paracentric inversion of 13q.

R S Sparkes, H Muller, I Klisak.   

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.

Entities:  

Mesh：

Year:  1979        PMID： 424728     DOI： 10.1126/science.424728

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


  29 in total

Review 1.  Intrachromosomal insertions: a case report and a review.

Authors:  K Madan; F H Menko
Journal:  Hum Genet       Date:  1992-04       Impact factor: 4.132

Review 2.  Human chromosome 8.

Authors:  S Wood
Journal:  J Med Genet       Date:  1988-11       Impact factor: 6.318

3.  A paracentric inversion of 7q illustrating a possible interchromosomal effect.

Authors:  J L Watt; K Ward; D A Couzin; G S Stephen; A Hill
Journal:  J Med Genet       Date:  1986-08       Impact factor: 6.318

Review 4.  Homozygous paracentric inversion 12 in a mentally retarded boy: a case report and review of the literature.

Authors:  H A Price; S H Roberts; K M Laurence
Journal:  Hum Genet       Date:  1987-02       Impact factor: 4.132

5.  High resolution cytogenetic evaluation of couples with recurring fetal wastage.

Authors:  T L Yang-Feng; S C Finley; W H Finley; U Francke
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

6.  Interstitial deletion of chromosome 13 and associated congenital anomalies.

Authors:  W W Nichols; R C Miller; E Hoffman; D Albert; R R Weichselbaum; J Nove; J B Little
Journal:  Hum Genet       Date:  1979-11       Impact factor: 4.132

7.  A dicentric recombinant 9 derived from a paracentric inversion: phenotype, cytogenetics, and molecular analysis of centromeres.

Authors:  M J Worsham; D A Miller; J M Devries; A R Mitchell; V R Babu; V Surli; L Weiss; D L Van Dyke
Journal:  Am J Hum Genet       Date:  1989-01       Impact factor: 11.025

8.  Familial retinoblastoma (mother and son) with 13q14 deletion.

Authors:  Y Fukushima; Y Kuroki; T Ito; I Kondo; I Nishigaki
Journal:  Hum Genet       Date:  1987-10       Impact factor: 4.132

9.  Tiny interstitial duplication of proximal 7q in association with a maternal paracentric inversion.

Authors:  J J Hoo; R Lorenz; A Fischer; W Fuhrmann
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

10.  Paracentric inversions in man.

Authors:  J P Fryns; A Kleczkowska; H Van den Berghe
Journal:  Hum Genet       Date:  1986-07       Impact factor: 4.132
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