Literature DB >> 6748019

Fragile site at 12q13 associated with phenotypic abnormalities.

S Morić-Petrović, Z Laca.   

Abstract

A dysmorphic 3 year old boy with severe psychomotor retardation is described. His karyotype was 45,XY,t(13q;14q)rob, fra (12q13). The relationship between fra(12q13) and the clinical picture is discussed.

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Mesh：

Year:  1984        PMID： 6748019      PMCID： PMC1049270          DOI： 10.1136/jmg.21.3.216

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


  4 in total

1.  Heritable fragile sites on human chromosomes I. Factors affecting expression in lymphocyte culture.

Authors:  G R Sutherland
Journal:  Am J Hum Genet       Date:  1979-03       Impact factor: 11.025

2.  The constitutional fragility of chromosome 12 in a case of 46,XX,var(12)(gh',RHG,CAG,CBG).

Authors:  E Donti; G Venti; V Bocchini; G Rosi; R Armellini; N Trabalza
Journal:  Hum Genet       Date:  1979-04-17       Impact factor: 4.132

3.  Constitutional chromosomal breakage.

Authors:  F Giraud; S Ayme; J F Mattei; M G Mattei
Journal:  Hum Genet       Date:  1976-10-28       Impact factor: 4.132

4.  Heritable fragile sites on human chromosomes. VI. Characterization of the fragile site at 12q13.

Authors:  G R Sutherland; L Hinton
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132
  4 in total
  3 in total

1.  A BrdU-requiring fragile site on chromosome 12.

Authors:  I Voiculescu; C Hausmann; G Wolff; E Back
Journal:  Hum Genet       Date:  1988-02       Impact factor: 4.132

2.  Studies on three rare fragile sites. 2q13, 12q13, and 17p12 segregating in one family.

Authors:  D R Romain; L M Columbano-Green; R H Smythe; R G Parfitt; O B Gebbie; C J Chapman
Journal:  Hum Genet       Date:  1986-06       Impact factor: 4.132

3.  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
  3 in total

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