Literature DB >> 263439

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

G Wolff, H Hameister, H H Ropers.   

Abstract

A pedigree is presented in which an apparently unaffected man transmitted the gene for X-linked mental retardation to at least four of his 12 daughters. None of his 12 sons was mentally retarded. These findings may be explained by a somatic mutation and germinal mosaicism in the father or by a half chromatid mutation in maternal gametes.

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Mesh：

Year:  1978        PMID： 263439     DOI： 10.1002/ajmg.1320020302

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


  8 in total

1.  Periodic hypokalemic paralysis transmitted by an unaffected male with negative family history: a delayed mutation?

Authors:  H H Ropers; H B Szliwowski
Journal:  Hum Genet       Date:  1979-04-17       Impact factor: 4.132

2.  Fragile site Xq27 and mental retardation. Clinical and cytogenetic manifestation in heterozygotes and hemizygotes of five kindreds.

Authors:  A Schmidt
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

3.  Screening for fra(X)(q) in a population of mentally retarded males.

Authors:  U Froster-Iskenius; G Felsch; C Schirren; E Schwinger
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

Review 4.  Nonspecific X-linked mental retardation--a review.

Authors:  G Tariverdian; B Weck
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

5.  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

6.  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

7.  Evidence that methylation of the FMR-I locus is responsible for variable phenotypic expression of the fragile X syndrome.

Authors:  A McConkie-Rosell; A M Lachiewicz; G A Spiridigliozzi; J Tarleton; S Schoenwald; M C Phelan; P Goonewardena; X Ding; W T Brown
Journal:  Am J Hum Genet       Date:  1993-10       Impact factor: 11.025

8.  Fragile (X) X-linked mental retardation. II. Frequency and replication pattern of fragile (X)(q28) in heterozygotes.

Authors:  J H Knoll; A E Chudley; J W Gerrard
Journal:  Am J Hum Genet       Date:  1984-05       Impact factor: 11.025
  8 in total

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