Literature DB >> 7277428

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.

A Tabor, L K Jensen, C Lundsteen, E Niebuhr.   

Abstract

A phenotypically normal mother had two apparently balanced translocations involving chromosomes 5, 7, and 12. Her karyotype was 46,XX,t(5;7) (5;12) (p14q34;p14;q21), while her daughter, who was also phenotypically normal, had inherited only one of the translocations. Her karyotype was 46,XX,-5,-7,+rec(5)t(5;7) (q34;p14)mat,+der(7)t(5;7) (q34;p14)mat. The other was lost during a meiotic crossing over, giving the daughter an apparently balanced chromosome complement.

Entities:  

Mesh:

Year:  1981        PMID: 7277428      PMCID: PMC1048740          DOI: 10.1136/jmg.18.4.307

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


  6 in total

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

Authors:  H N Bass; R S Sparkes
Journal:  J Med Genet       Date:  1979-06       Impact factor: 6.318

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.  A family with two translocations and a polymorphism involving chromosome 14.

Authors:  P A Jacobs; K E Buckton; S Christie; M Newton; D Matthew
Journal:  J Med Genet       Date:  1974-03       Impact factor: 6.318

4.  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

5.  10p- syndrome associated with multiple chromosomal abnormalities.

Authors:  F Prieto; L Badia; J A Moreno; P Barbero; F Asensi
Journal:  Hum Genet       Date:  1978-12-18       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

1.  Complex chromosomal rearrangement and multiple spontaneous abortions.

Authors:  J L Gorski; B S Emanuel; E H Zackai; M Mennuti
Journal:  Hum Genet       Date:  1986-11       Impact factor: 4.132

2.  Familial complex autosomal translocations involving chromosomes 7, 8, and 9 exhibiting male and female transmission with segregation and recombination.

Authors:  S Walker; P J Howard; D Hunter
Journal:  J Med Genet       Date:  1985-12       Impact factor: 6.318

3.  Down's syndrome with a recombinant tandem duplication of chromosome 21 derived from a maternal ring.

Authors:  R T Howell; A McDermott; A Gardner; V Dickinson
Journal:  J Med Genet       Date:  1984-08       Impact factor: 6.318

4.  A complex rearrangement involving three autosomes in a phenotypically normal male presenting with sterility.

Authors:  A Joseph; I M Thomas
Journal:  J Med Genet       Date:  1982-10       Impact factor: 6.318

  4 in total

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