Literature DB >> 853319

Two reciprocal translocations associated with microcephaly and retardation.

E F Bell, D Warburton.   

Abstract

The first case is reported of a karyotype containing two apparently unrelated reciprocal translocations, involving chromosomes 1, 2, 5, and 7. It is suggested that the patient's psychomotor retardation and microcephaly may be the result of the loss of a small amount of chromosomal material accompanying these translocations.

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Mesh：

Year:  1977        PMID： 853319      PMCID： PMC1013534          DOI： 10.1136/jmg.14.2.141

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


  12 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

Review 2.  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

3.  Prenatal diagnosis and postnatal follow-up of an abnormal child with two de novo apparently balanced translocations.

Authors:  C Stoll; E Flori; J Macler; R Renaud
Journal:  Hum Genet       Date:  1979-03-12       Impact factor: 4.132

4.  De novo 13q paracentric inversion in a boy with cleft palate and mental retardation.

Authors:  V M Riccardi; G P Holmquist
Journal:  Hum Genet       Date:  1979-11       Impact factor: 4.132

5.  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

6.  Mosaic Down's syndrome with de novo 45,XX,-21,-22,+t(21q;22q)/46,XX,-21,+t(21q;21q) rearrangement.

Authors:  A T Tharapel; R Redheendran; C B Mankinen; M K Kukolich
Journal:  J Med Genet       Date:  1984-10       Impact factor: 6.318

7.  Segregation of two independent chromosomal translocations in one family.

Authors:  K Miller; S D Flatz
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

8.  A malformed baby with two separate de novo translocations.

Authors:  W E Chewings; T P Cocks; R J Gardner; J E Clarkson
Journal:  J Med Genet       Date:  1982-02       Impact factor: 6.318

9.  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

10.  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
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