Literature DB >> 157395

Two balanced translocations in three generations of a pedigree: t(7;10) (q11;q22) and t(14;21) (14qter to cen to 21qter)1.

H N Bass, R S Sparkes.   

Abstract

A reciprocal chromosome translocation between 7q and 10q and an unrelated Robertsonian translocation involving 14q and 21q were found in a healthy 44-year-old man, in his normal 18-year-old son, and in his mother. They were ascertained through the man's brother, whose grandson has Down's syndrome as a result of an inherited 14q21q translocation. To our knowledge, this is the second report of a karyotype with both reciprocal and Robertsonian translocations in a single subject, and only the fourth report of independently segregating double translocations occurring in more than one generation.

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Mesh:

Year:  1979        PMID: 157395      PMCID: PMC1012694          DOI: 10.1136/jmg.16.3.215

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  6 in total

1.  Complex translocation t(9;21)(9;22)(q12p13)(q12q11) in the family of a child with 9p trisomy syndrome.

Authors:  B Dallapiccola; G Bollea; C Mazzilli; E Gandini
Journal:  Hum Genet       Date:  1976-07-07       Impact factor: 4.132

2.  [2 familial translocations occurring together in each of 2 sisters, one balanced, the other partial trisomic 10q].

Authors:  J de Grouchy; C Finaz; M Roubin; J Roy
Journal:  Ann Genet       Date:  1972-06

3.  [46, XX, 1q-, 2q-, Dq+, 16q+ karyotype in a polymalformed child].

Authors:  J de Grouchy; F Lautmann
Journal:  Ann Genet       Date:  1968-06

4.  Balanced t(8;9)(q12;q33)pat carrier with phenotypic abnormalities attributable to a de novo terminal deletion of the long arm of chromosome 7.

Authors:  B Biederman; P Bowen
Journal:  Hum Genet       Date:  1978-02-23       Impact factor: 4.132

5.  Double translocation t(7;12),t(2;6) heterozygosity in one family. A contribution to the trisomy 12p syndrome.

Authors:  J B Bijlsma; H F de France; L M Bleeker-Wagemakers; P F Dijkstra
Journal:  Hum Genet       Date:  1978-01-19       Impact factor: 4.132

6.  Two reciprocal translocations associated with microcephaly and retardation.

Authors:  E F Bell; D Warburton
Journal:  J Med Genet       Date:  1977-04       Impact factor: 6.318

  6 in total
  4 in total

Review 1.  Are double translocations double trouble?

Authors:  S M Bowser-Riley; M J Griffiths; M R Creasy; P A Farndon; K E Martin; D A Thomson; S A Larkins; R A Johnson; J L Watt
Journal:  J Med Genet       Date:  1988-05       Impact factor: 6.318

2.  Segregation of a complex rearrangement of chromosomes 6, 7, 8, and 12 through three generations.

Authors:  B Meer; G Wolff; E Back
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

3.  A 5;7, 5;12 double reciprocal translocation in a normal mother and a 5;7 translocation with a recombinant chromosome 5 in her normal child.

Authors:  A Tabor; L K Jensen; C Lundsteen; E Niebuhr
Journal:  J Med Genet       Date:  1981-08       Impact factor: 6.318

4.  A family with three independent autosomal translocations associated with 7q32----7qter syndrome.

Authors:  H N Bass; R S Sparkes; M M Lessner; M Fox; B Phoenix; J Bernar
Journal:  J Med Genet       Date:  1985-02       Impact factor: 6.318

  4 in total

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