Literature DB >> 6711598

The fragile X syndrome I: familial variation in the proportion of lymphocytes with the fragile site in males.

D Soudek, M W Partington, J S Lawson.   

Abstract

A review of 61 males with the fragile X positive form of the Martin Bell syndrome from 30 families seen in the past 4 years suggests that the number of lymphocytes with the fragile site on the X chromosome (fra(X) ) in retarded males tends to be characteristic for the individual and similar to that found in other retarded males in the same family. The number of lymphocytes with fra(X) was not correlated with height, weight, occipitofrontal circumference, ear length or mean testicular volume in adults nor with age over the whole series.

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Year:  1984        PMID: 6711598     DOI: 10.1002/ajmg.1320170115

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  4 in total

1.  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

Review 2.  Recently recognized chromosomal defects of clinical importance.

Authors:  M Pembrey; M Baraitser
Journal:  Postgrad Med J       Date:  1986-02       Impact factor: 2.401

3.  Frequency and replication status of the fragile X, fra(X)(q27-28), in a pair of monozygotic twins of markedly differing intelligence.

Authors:  E Tuckerman; T Webb; S E Bundey
Journal:  J Med Genet       Date:  1985-04       Impact factor: 6.318

4.  Genetic mapping of DNA segments relative to the locus for the fragile-X syndrome at Xq27.3.

Authors:  L M Mulligan; M A Phillips; C J Forster-Gibson; J Beckett; M W Partington; N E Simpson; J J Holden; B N White
Journal:  Am J Hum Genet       Date:  1985-05       Impact factor: 11.025

  4 in total

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