Literature DB >> 885541

A case of 46,XY,t(1;13) (q24;q32) with mental retardation.

L Wilbur, F M Curcuru-Giordano, S G Krishna, N B Kardon, E C Jenkins.   

Abstract

A 14-year-old mentally retarded boy with congenital malformations of unknown etiology was found to have a de novo apparently balanced reciprocal translocation between chromosomal arms 1q and 13q. There is only one other case where a similar translocation was observed but the breakpoints could be localized only by regions and the individual was not mentally retarded.

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Mesh：

Year:  1977        PMID： 885541     DOI： 10.1007/bf00393588

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  10 in total

1.  De novo occurrence of 46,XX,t(4;13) (q31;q14) in a mentally retarded girl.

Authors:  E C Jenkins; F M Curcuru-Giordano; S G Krishna; J Cantarella
Journal:  Ann Genet       Date:  1975-06

2.  Recurrent abortions and paternal balanced translocation t(lq--;13q+).

Authors:  D Rozynkowa; B Trebicka-Kwiatkowska; B Raczkiewicz; A Krzemiński
Journal:  Humangenetik       Date:  1975-08-25

3.  [De novo t(3 ; 20) (p 14 ; p 12) translocation in a young girl].

Authors:  C Stoll; J M Levy
Journal:  Ann Genet       Date:  1974-09

4.  C bands in human metaphase chromosomes treated by barium hydroxide.

Authors:  F Salamanca; S Armendares
Journal:  Ann Genet       Date:  1974-06

5.  Philadelphia-chromosome translocation and chronic myeloid leukaemia.

Authors:  D S Borgaonkar
Journal:  Lancet       Date:  1973-06-02       Impact factor: 79.321

6.  Letter: A new translocation related to the Philadelphia chromosome.

Authors:  I Hayata; S Kakati; A A Sandberg
Journal:  Lancet       Date:  1973-12-15       Impact factor: 79.321

7.  Rapid processing of primary embryonic tissues for chromosome banding pattern analysis.

Authors:  H P Klinger
Journal:  Cytogenetics       Date:  1972

8.  Precise identification of various chromosomal abnormalities.

Authors:  K Hirschhorn; M Lucas; I Wallace
Journal:  Ann Hum Genet       Date:  1973-04       Impact factor: 1.670

9.  Correlation between euploid structural chromosome rearrangements and mental subnormality in humans.

Authors:  P A Jacobs
Journal:  Nature       Date:  1974-05-10       Impact factor: 49.962

10.  The 24 fluorescence patterns of the human metaphase chromosomes - distinguishing characters and variability.

Authors:  T Caspersson; G Lomakka; L Zech
Journal:  Hereditas       Date:  1972       Impact factor: 3.271
  10 in total
  2 in total

1.  Systematic characterisation of disease associated balanced chromosome rearrangements by FISH: cytogenetically and genetically anchored YACs identify microdeletions and candidate regions for mental retardation genes.

Authors:  J Wirth; H G Nothwang; S van der Maarel; C Menzel; G Borck; I Lopez-Pajares; K Brøndum-Nielsen; N Tommerup; M Bugge; H H Ropers; T Haaf
Journal:  J Med Genet       Date:  1999-04       Impact factor: 6.318

Review 2.  Balanced translocations in mental retardation.

Authors:  Geert Vandeweyer; R Frank Kooy
Journal:  Hum Genet       Date:  2009-04-05       Impact factor: 4.132
  2 in total

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