Literature DB >> 2323087

The common fragile site in band q27 of the human X chromosome is not coincident with the fragile X.

G R Sutherland1, E Baker.   

Abstract

The common fragile site on the end of the long arm of the human X chromosome has been shown to be at a different location from the rare fragile site which produces the fragile X syndrome of intellectual handicap. The different locations can be clearly seen in chromosomes at about the 550 band level of resolution. This finding should help resolve difficulties in fragile X cytogenetics where expression of the common fragile site can lead to false positive diagnoses.

Entities:  

Mesh:

Year:  1990        PMID: 2323087     DOI: 10.1111/j.1399-0004.1990.tb03498.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  10 in total

1.  Fragile X syndrome: diagnosis using highly polymorphic microsatellite markers.

Authors:  R I Richards; Y Shen; K Holman; H Kozman; V J Hyland; J C Mulley; G R Sutherland
Journal:  Am J Hum Genet       Date:  1991-06       Impact factor: 11.025

2.  Uridine enhances expression of the fragile X chromosome in human lymphocytes.

Authors:  M Kähkönen; R Haataja; J Leisti
Journal:  Hum Genet       Date:  1991-05       Impact factor: 4.132

3.  Prevalence of fragile X syndrome.

Authors:  T Webb; S Bundey
Journal:  J Med Genet       Date:  1991-05       Impact factor: 6.318

4.  Fragile-X syndrome: unique genetics of the heritable unstable element.

Authors:  S Yu; J Mulley; D Loesch; G Turner; A Donnelly; A Gedeon; D Hillen; E Kremer; M Lynch; M Pritchard
Journal:  Am J Hum Genet       Date:  1992-05       Impact factor: 11.025

5.  Fragile X syndrome is less common than previously estimated.

Authors:  J E Morton; S Bundey; T P Webb; F MacDonald; P M Rindl; S Bullock
Journal:  J Med Genet       Date:  1997-01       Impact factor: 6.318

6.  Genetic mapping of new DNA probes at Xq27 defines a strategy for DNA studies in the fragile X syndrome.

Authors:  G K Suthers; J C Mulley; M A Voelckel; N Dahl; M L Väisänen; P Steinbach; I A Glass; C E Schwartz; B A van Oost; S N Thibodeau
Journal:  Am J Hum Genet       Date:  1991-03       Impact factor: 11.025

7.  Fragile X syndrome.

Authors:  J Turk
Journal:  Arch Dis Child       Date:  1995-01       Impact factor: 3.791

8.  Fragile X expression and X inactivation. II. The fragile site at Xq27.3 has a basic function in the pathogenesis of fragile X-linked mental retardation.

Authors:  D Wöhrle; P Steinbach
Journal:  Hum Genet       Date:  1991-08       Impact factor: 4.132

9.  Experience with direct molecular diagnosis of fragile X.

Authors:  J C Mulley; S Yu; A K Gedeon; A Donnelly; G Turner; D Loesch; C J Chapman; R J Gardner; R I Richards; G R Sutherland
Journal:  J Med Genet       Date:  1992-06       Impact factor: 6.318

10.  Molecular analysis of a ring chromosome X in a family with fragile X syndrome.

Authors:  E Mornet; A Bogyo; C Deluchat; B Simon-Bouy; M Mathieu; F Thépot; M C Grisard; E Leguern; J Boué; A Boué
Journal:  Hum Genet       Date:  1993-10       Impact factor: 4.132

  10 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.