Literature DB >> 6620329

Fragile X trait in a large kindred: transmission also through normal males.

B C Van Roy, M C De Smedt, R A Raes, J E Dumon, J G Leroy.   

Abstract

In the pedigree reported here two apparently normal males may have transmitted the fragile X chromosome. Eighteen family members were examined cytogenetically. The fragile X was detected in a high percentage of cells from nine mentally retarded members of this family (six males and three females) and in one female obligate carrier. Four other obligate carriers showed no or only a few cells with the fragile X.

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Mesh：

Year:  1983        PMID： 6620329      PMCID： PMC1049121          DOI： 10.1136/jmg.20.4.286

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


  10 in total

1.  Heritable fragile sites on human chromosomes II. Distribution, phenotypic effects, and cytogenetics.

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

2.  Fragile X in a normal male: a cautionary tale.

Authors:  M G Daker; P Chidiac; C N Fear; A C Berry
Journal:  Lancet       Date:  1981-04-04       Impact factor: 79.321

3.  Transmission of fragile (X) (q27) site from a male.

Authors:  G C Webb; J G Rogers; D B Pitt; J Halliday; T Theobald
Journal:  Lancet       Date:  1981-11-28       Impact factor: 79.321

4.  Marker X syndrome in an oriental family with probable transmission by a normal male.

Authors:  F A Rhoads; A C Oglesby; M Mayer; P A Jacobs
Journal:  Am J Med Genet       Date:  1982-06

5.  Transmission of fragile (X)(q27) from normal male(s).

Authors:  J P Fryns; H van den Berghe
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

6.  X-linked mental retardation, macro-orchidism, and the Xq27 fragile site.

Authors:  G Turner; A Daniel; M Frost
Journal:  J Pediatr       Date:  1980-05       Impact factor: 4.406

7.  X-linked mental retardation with fragile X. A pedigree showing transmission by apparently unaffected males and partial expression in female carriers.

Authors:  K B Nielsen; N Tommerup; H Poulsen; M Mikkelsen
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

8.  Heritable fragile sites on human chromosomes. III. Detection of fra(X)(q27) in males with X-linked mental retardation and in their female relatives.

Authors:  G R Sutherland
Journal:  Hum Genet       Date:  1979       Impact factor: 4.132

9.  Familial X-linked mental retardation and fragile X chromosomes in two Swedish families.

Authors:  K H Gustavson; G Holmgren; H K Blomquist; M Mikkelsen; I Nordenson; H Poulsen; N Tommerup
Journal:  Clin Genet       Date:  1981-02       Impact factor: 4.438

10.  Fragile X-linked mental retardation: the Martin-Bell syndrome.

Authors:  B W Richards; P E Sylvester; C Brooker
Journal:  J Ment Defic Res       Date:  1981-12
  10 in total
  11 in total

1.  FMR1 CGG-repeat instability in single sperm and lymphocytes of fragile-X premutation males.

Authors:  S L Nolin; G E Houck; A D Gargano; H Blumstein; C S Dobkin; W T Brown
Journal:  Am J Hum Genet       Date:  1999-09       Impact factor: 11.025

2.  Evidence against close linkage of the loci for fraXq of Martin-Bell syndrome and for factor IX.

Authors:  B Zoll; J Arnemann; M Krawczak; D N Cooper; G Pescia; W Wahli; P Steinbach; J Schmidtke
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

3.  Twelve families with fragile X(q27).

Authors:  T Webb; A Thake; J Todd
Journal:  J Med Genet       Date:  1986-10       Impact factor: 6.318

4.  Transmission of the marker X syndrome trait by unaffected males: conclusions from studies of large families.

Authors:  U Froster-Iskenius; A Schulze; E Schwinger
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

5.  Founder effect in a Belgian-Dutch fragile X population.

Authors:  S Buyle; E Reyniers; L Vits; K De Boulle; I Handig; F L Wuyts; W Deelen; D J Halley; B A Oostra; P J Willems
Journal:  Hum Genet       Date:  1993-10-01       Impact factor: 4.132

6.  Further segregation analysis of the fragile X syndrome with special reference to transmitting males.

Authors:  S L Sherman; P A Jacobs; N E Morton; U Froster-Iskenius; P N Howard-Peebles; K B Nielsen; M W Partington; G R Sutherland; G Turner; M Watson
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

7.  Unaffected carrier males in families with fragile X syndrome.

Authors:  P N Howard-Peebles; J M Friedman
Journal:  Am J Hum Genet       Date:  1985-09       Impact factor: 11.025

8.  Mental impairment in Martin-Bell syndrome is probably determined by interaction of several genes: simple explanation of phenotypic differences between unaffected and affected males with the same X chromosome.

Authors:  P Steinbach
Journal:  Hum Genet       Date:  1986-03       Impact factor: 4.132

9.  Genetic linkage heterogeneity in the fragile X syndrome.

Authors:  W T Brown; A C Gross; C B Chan; E C Jenkins
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

10.  Intelligence and cognitive profile in the fra(X) syndrome: a longitudinal study in 18 fra(X) boys.

Authors:  L M Curfs; G Schreppers-Tijdink; A Wiegers; M Borghgraef; J P Fryns
Journal:  J Med Genet       Date:  1989-07       Impact factor: 6.318
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