Literature DB >> 7153767

[Genetic aspects of autosomal fragile sites. Apropos of 40 Cases].

M Guichaoua, M G Matteï, J F Matteï, F Giraud.   

Abstract

We report forty cases of congenital autosomal fragile sites, which have been analysed genetically and cytogenetically in the light of previous reports in the literature. The nature of the lesion of DNA at the fragile site is unknown. In contrast with the fragile site Xq27 there is no particular phenotype associated with autosomal fragile sites. The incidence of early spontaneous abortion and of chromosomal abnormalities in the offspring of carriers of these inherited autosomal fragile sites suggests the possibility of prenatal diagnosis.

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Year:  1982        PMID: 7153767

Source DB:  PubMed          Journal:  J Genet Hum        ISSN: 0021-7743


  6 in total

1.  Population cytogenetics of folate-sensitive fragile sites. II. Autosomal rare fragile sites.

Authors:  M Kähkönen; C Tengström; T Alitalo; R Matilainen; M Kaski; E Airaksinen
Journal:  Hum Genet       Date:  1989-04       Impact factor: 4.132

2.  Heritable fragile sites on human chromosomes. X. New folate-sensitive fragile sites: 6p23, 9p21, 9q32, and 11q23.

Authors:  G R Sutherland; P B Jacky; E Baker; A Manuel
Journal:  Am J Hum Genet       Date:  1983-05       Impact factor: 11.025

3.  FREQUENCY AND DISTRIBUTION OF CHROMOSOME FRAGILE SITES OR LESIONS IN MALES WITH MENTAL RETARDATION: A DESCRIPTIVE STUDY.

Authors:  Merlin G Butler
Journal:  J Tenn Acad Sci       Date:  1998 Jul-Oct

4.  Expression of fragile sites in human sperm and lymphocyte chromosomes.

Authors:  J Benet; C Fuster; A Genescà; J Navarro; R Miró; J Egozcue; C Templado
Journal:  Hum Genet       Date:  1989-02       Impact factor: 4.132

5.  Fragile sites, chromosome evolution, and human neoplasia.

Authors:  R Miró; I C Clemente; C Fuster; J Egozcue
Journal:  Hum Genet       Date:  1987-04       Impact factor: 4.132

6.  CGG-repeat expansion in the DIP2B gene is associated with the fragile site FRA12A on chromosome 12q13.1.

Authors:  Birgitta Winnepenninckx; Kim Debacker; Jacqueline Ramsay; Dominique Smeets; Arie Smits; David R FitzPatrick; R Frank Kooy
Journal:  Am J Hum Genet       Date:  2006-12-12       Impact factor: 11.025

  6 in total

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