Literature DB >> 7102725

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

F A Rhoads, A C Oglesby, M Mayer, P A Jacobs.   

Abstract

We report an oriental family with sex-linked mental retardation, macroorchidism, and a marker or fragile site on the X chromosome--mar(X)(q28). The three affected males resemble clinically most previously reported affected Caucasians. The marker was present in four female 40-70 years old, including one with normal intelligence. Transmission of the disorder appears to have taken place through a clinically normal male to his grandson.

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Year:  1982        PMID: 7102725     DOI: 10.1002/ajmg.1320120211

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


  18 in total

1.  Twelve families with fragile X(q27).

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

2.  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

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

4.  A cytogenetic study of a population of mentally retarded males with special reference to the marker (X) syndrome.

Authors:  P A Jacobs; M Mayer; J Matsuura; F Rhoads; S C Yee
Journal:  Hum Genet       Date:  1983       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

Review 6.  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

7.  Cytogenetic investigations in mentally retarded and normal males from 14 families with the fragile site at Xq28. Results of folic acid treatment on fra(X) expression.

Authors:  K B Nielsen; N Tommerup
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

8.  Fragile (X) expression: relationship to the cell cycle.

Authors:  E S Cantú; P A Jacobs
Journal:  Hum Genet       Date:  1984       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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