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Literature DB >> 6840758

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

P A Jacobs, M Mayer, J Matsuura, F Rhoads, S C Yee.

Abstract

A cytogenetic survey of a population of 274 mentally retarded males on community placement is described. Thirty-five had an aneuploid chromosome constitution and five had the mar(X) syndrome. The range of clinical variation among the mar(X) probands and their affected relatives is described. Family studies were possible for four of the five mar(X) probands and in two families the mar(X) gene was apparently transmitted through a clinically normal male, suggesting that this type of male transmission may be a not uncommon phenomenon.

Entities: Disease

Mesh：

Year: 1983 PMID： 6840758 DOI： 10.1007/bf00291533

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

21 in total

1. A chromosome survey of a hospital for the mentally subnormal.

Authors: M J Faed; J Robertson; M A Field; J P Mellon
Journal: Clin Genet Date: 1979-09 Impact factor: 4.438

2. 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

3. Significance of phenotypic and chromosomal abnormalities in X-linked mental retardation (Martin-Bell or Renpenning syndrome).

Authors: M Jennings; J G Hall; H Hoehn
Journal: Am J Med Genet Date: 1980

4. Expression in lymphocyte and fibroblast culture of the fragile X chromosome: a new technical approach.

Authors: M G Mattei; J F Mattei; I Vidal; F Giraud
Journal: Hum Genet Date: 1981 Impact factor: 4.132

5. 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

6. Fragile (X)(q27) sites in a pedigree with female carriers showing mild to severe mental retardation.

Authors: G C Webb; J L Halliday; D B Pitt; C G Judge; M Leversha
Journal: J Med Genet Date: 1982-02 Impact factor: 6.318

7. Familial X-linked mental retardation with an X chromosome abnormality.

Authors: J Harvey; C Judge; S Wiener
Journal: J Med Genet Date: 1977-02 Impact factor: 6.318

8. Heritable fragile sites on human chromosomes. VIII. Preliminary population cytogenetic data on the folic-acid-sensitive fragile sites.

Authors: G R Sutherland
Journal: Am J Hum Genet Date: 1982-05 Impact factor: 11.025

9. 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. FUdR induction of the X chromosome fragile site: evidence for the mechanism of folic acid and thymidine inhibition.

Authors: T W Glover
Journal: Am J Hum Genet Date: 1981-03 Impact factor: 11.025

17 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. 2017 Presidential Address: Checking, Balancing, and Celebrating Diversity: Celebrating Some of the Women Who Paved the Way.

Authors: Nancy J Cox
Journal: Am J Hum Genet Date: 2018-03-01 Impact factor: 11.025

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

1. A chromosome survey of a hospital for the mentally subnormal.

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

3. Significance of phenotypic and chromosomal abnormalities in X-linked mental retardation (Martin-Bell or Renpenning syndrome).

4. Expression in lymphocyte and fibroblast culture of the fragile X chromosome: a new technical approach.

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

6. Fragile (X)(q27) sites in a pedigree with female carriers showing mild to severe mental retardation.

7. Familial X-linked mental retardation with an X chromosome abnormality.

8. Heritable fragile sites on human chromosomes. VIII. Preliminary population cytogenetic data on the folic-acid-sensitive fragile sites.

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

10. FUdR induction of the X chromosome fragile site: evidence for the mechanism of folic acid and thymidine inhibition.

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

Review 2. Recently recognized chromosomal defects of clinical importance.

3. 2017 Presidential Address: Checking, Balancing, and Celebrating Diversity: Celebrating Some of the Women Who Paved the Way.

4. Clinico-neurological investigations in the fra(X) form of mental retardation.

Review 5. The fragile X syndrome: the patients and their chromosomes.

6. Frequency of the fragile X syndrome in Japanese mentally retarded males.

Review 7. Fragile X syndrome: A review of clinical management.

8. Inactivation pattern of the fragile X in heterozygous carriers.

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

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