Literature DB >> 3430542

The inheritance of fragile sites: apparent absence of fra(2)(q13) in the parents of three unrelated probands.

L Keskiaho1, S Knuutila, H Pihko, A Nuutila, U Kaski, M Koivikko, A de la Chapelle.   

Abstract

We describe the inherited folate sensitive fragile site, fra(2)(q13), in three unrelated mentally retarded children, two of them with different forms of epilepsy. Fra(2)(q13) was detected in one healthy sib of one of the probands. Except for one cell in one of the fathers, fra(2)(q13) could not be detected in any of the six parents, who were repeatedly studied using methods known to induce fragile sites of this type. These findings suggest that fra(2)(q13) is not associated with the clinical features of our patients and can be transmitted by persons not expressing it. The expression of fra(2)(q13) may be age dependent.

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Year:  1987        PMID: 3430542      PMCID: PMC1050345          DOI: 10.1136/jmg.24.11.678

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


  5 in total

1.  New classes of common fragile sites induced by 5-azacytidine and bromodeoxyuridine.

Authors:  G R Sutherland; M I Parslow; E Baker
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

2.  Inherited constriction fragility of chromosome 2.

Authors:  M A Ferguson-Smith
Journal:  Ann Genet       Date:  1973-03

3.  [Fragile site on chromosome 2 (q11) in a case of familial lymphohistiocytosis].

Authors:  S Gilgenkrantz; M J Gregoire; M Chery; P Bordigoni; D Olive
Journal:  J Genet Hum       Date:  1984-07

4.  A fragile secondary constriction on chromosome 2 in a severely mentally retarded patient.

Authors:  A J Williams; R T Howell
Journal:  J Ment Defic Res       Date:  1977-09

5.  Heritable fragile sites on human chromosomes. VIII. Preliminary population cytogenetic data on the folic-acid-sensitive fragile sites.

Authors:  G R Sutherland
Journal:  Am J Hum Genet       Date:  1982-05       Impact factor: 11.025

  5 in total
  2 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.  Is the expression of fra(2)(q13) age dependent?

Authors:  J P Fryns; H Van den Berghe
Journal:  J Med Genet       Date:  1988-10       Impact factor: 6.318

  2 in total

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