Literature DB >> 125223

Translocation (13q21q). Four generation family study with analysis of satellite associations, fluorescent markers, and prenatal diagnosis.

M Mikkelsen, A Hansson, P Jacobsen, N Hobolth.   

Abstract

A (13q21q) translocation was found in an infant with Down's syndrome. The 17-year-old mother and the grandmother carried the translocation 45,XX,t(13;21)(p12;q11). The great grandparents had normal karyotypes. Fluorescence marker studies suggested that the translocation originated in the great grandmother. The hypothesis was supported by satellite association studies which showed a significant excess of 13-21 and 13-15 associations in the great grandmother.

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Year:  1975        PMID: 125223

Source DB:  PubMed          Journal:  Humangenetik        ISSN: 0018-7348


  3 in total

1.  An analysis of the break points of structural rearrangements in man.

Authors:  P A Jacobs; K E Buckton; C Cunningham; M Newton
Journal:  J Med Genet       Date:  1974-03       Impact factor: 6.318

2.  Chromosome analysis of fetuses in risk pregnancies.

Authors:  J Philip; J Bang; N Hahnemann; M Mikkelsen; E Niebuhr; H Rebbe; J Weber
Journal:  Acta Obstet Gynecol Scand Suppl       Date:  1974

3.  Identification of different Robertsonian translocations in man by quinacrine mustard fluorescence analysis.

Authors:  T Caspersson; M Hultén; J Lindsten; A J Therkelsen; L Zech
Journal:  Hereditas       Date:  1971       Impact factor: 3.271

  3 in total
  6 in total

1.  Maternal and paternal origin of extra chromosome in trisomy 21.

Authors:  M Mikkelsen; A Hallberg; H Poulsen
Journal:  Hum Genet       Date:  1976-04-15       Impact factor: 4.132

2.  Distribution of human chromosomes on the metaphase plate using banding techniques.

Authors:  B Sele; P Jalbert; B van Cutsem; M Lucas; C Mouriquand; R Bouchez
Journal:  Hum Genet       Date:  1977-11-02       Impact factor: 4.132

3.  De novo 21/21 translocation Down syndrome. Studies of parental origin of the translocation and acrocentric associations in parents.

Authors:  J Nikolis; V Kekić
Journal:  Hum Genet       Date:  1986-06       Impact factor: 4.132

4.  Satellite association in Down's syndrome.

Authors:  E V Davison; D F Roberts; M H Callow
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

5.  The fate of DNA satellites I, II, III and ribosomal DNA in a familial dicentric chromosome 13:14.

Authors:  J R Gosden; C Gosden; S Lawrie; A R Mitchell
Journal:  Hum Genet       Date:  1978-03-17       Impact factor: 4.132

6.  Higher risk to D;G translocation carriers fo tdic(13;21) as compared to tdic(14;21)

Authors:  A Daniel; K Williams; P R Lam-Po-Tang
Journal:  J Med Genet       Date:  1980-12       Impact factor: 6.318

  6 in total

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