Literature DB >> 10819017

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

K B Nielsen1, N Tommerup, H Poulsen, M Mikkelsen.   

Abstract

A large family is reported in which mental retardation associated with the fragile site at Xq28 was found. Three normal males seemed to have transmitted the trait through their daughters to affected grandchildren. A total of 19 family members were investigated cytogenetically. Mentally retarded males showed macroorchidism and the fragile X. Three mentally retarded females were found, with the fragile X in a high percentage of cells; in contrast, the obligate carriers showed no or only few cells with the fragile X.

Entities:  

Mesh：

Year:  1981        PMID： 10819017     DOI： 10.1007/bf00278849

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  10 in total

1.  Hereditary mental defect showing the pattern of sex influence.

Authors:  M S LOSOWSKY
Journal:  J Ment Defic Res       Date:  1961-06

2.  A PEDIGREE OF MENTAL DEFECT SHOWING SEX-LINKAGE.

Authors:  J P Martin; J Bell
Journal:  J Neurol Psychiatry       Date:  1943-07

3.  Inherited congenital normofunctional testicular hyperplasia and mental deficiency.

Authors:  J M Cantú; H E Scaglia; M Medina; M González-Diddi; T Morato; M E Moreno; G Pérez-Palacios
Journal:  Hum Genet       Date:  1976-07-07       Impact factor: 4.132

4.  X-linked mental retardation: transmission of the trait by an apparently unaffected male.

Authors:  G Wolff; H Hameister; H H Ropers
Journal:  Am J Med Genet       Date:  1978

5.  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

Review 6.  X-linked mental retardation.

Authors:  G Turner; J M Opitz
Journal:  Am J Med Genet       Date:  1980

7.  X-linked mental retardation: a study of 7 families.

Authors:  P A Jacobs; T W Glover; M Mayer; P Fox; J W Gerrard; H G Dunn; D S Herbst
Journal:  Am J Med Genet       Date:  1980

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

Review 9.  Nonspecific X-linked mental retardation I: a review with information from 24 new families.

Authors:  D S Herbst
Journal:  Am J Med Genet       Date:  1980

10.  Heterozygous expression of X-linked mental retardation and X-chromosome marker fra(X)(q27).

Authors:  G Turner; R Brookwell; A Daniel; M Selikowitz; M Zilibowitz
Journal:  N Engl J Med       Date:  1980-09-18       Impact factor: 91.245
  10 in total
  27 in total

1.  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

2.  Linkage studies of X-linked mental retardation: high frequency of recombination in the telomeric region of the human X chromosome (fragile site/linkage/recombination/X chromosome).

Authors:  K E Davies; M G Mattei; J F Mattei; H Veenema; S McGlade; K Harper; N Tommerup; K B Nielsen; M Mikkelsen; P Beighton
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132

3.  Different inducibility and possible significance of several concomitant "fragile sites" in two brothers.

Authors:  F Shabtai; J Orlin; J Hart; I Halbrecht; D Klar; J Friedman
Journal:  Hum Genet       Date:  1986-09       Impact factor: 4.132

4.  The fragile X syndrome in a large family. I. Cytogenetic and clinical investigations.

Authors:  H Veenema; J P Geraedts; G C Beverstock; P L Pearson
Journal:  J Med Genet       Date:  1987-01       Impact factor: 6.318

5.  A variant of the fra(X) syndrome.

Authors:  E M Bühler; F Hadziselimovic; U Pira
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

6.  A community study of severe mental retardation in the West Midlands and the importance of the fragile X chromosome in its aetiology.

Authors:  S Bundey; T P Webb; A Thake; J Todd
Journal:  J Med Genet       Date:  1985-08       Impact factor: 6.318

Review 7.  The fragile X syndrome: the patients and their chromosomes.

Authors:  M A De Arce; A Kearns
Journal:  J Med Genet       Date:  1984-04       Impact factor: 6.318

8.  Frequency of the fragile X syndrome in institutionalized mentally retarded females in Japan.

Authors:  T Arinami; I Kondo; S Nakajima; H Hamaguchi
Journal:  Hum Genet       Date:  1987-08       Impact factor: 4.132

9.  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

10.  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
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