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Literature DB >> 2564838

Study of a family with a fragile site of the X chromosome at Xq27-28 without mental retardation.

M A Voelckel¹, N Philip, C Piquet, M C Pellissier, I Oberlé, F Birg, M G Mattei, J F Mattei.

Abstract

The fragile site Xq27-28 was observed in several individuals of a large family. It is expressed at a high frequency among the carrier females, even as adults, and in one clinically normal male. None of the members of this family is affected with the mental retardation normally linked to this fragile site. Cytogenetic and flanking DNA marker polymorphism studies suggest a possible dissociation between the fragile site and clinical expression of the disease.

Entities: Disease

Mesh：

Substances：
Genetic Markers

Year: 1989 PMID： 2564838 DOI： 10.1007/BF00283690

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

31 in total

1. Improved DNA markers for efficient analysis of fragile X families.

Authors: R Heilig; I Oberlé; B Arveiler; A Hanauer; M Vidaud; J L Mandel
Journal: Am J Med Genet Date: 1988 May-Jun

2. Genetic mapping of the Xq27-q28 region: new RFLP markers useful for diagnostic applications in fragile-X and hemophilia-B families.

Authors: B Arveiler; I Oberlé; A Vincent; M H Hofker; P L Pearson; J L Mandel
Journal: Am J Hum Genet Date: 1988-02 Impact factor: 11.025

3. Marker X chromosomes and mental retardation.

Authors: G R Sutherland
Journal: N Engl J Med Date: 1977-06-16 Impact factor: 91.245

4. The marker (X) syndrome: a cytogenetic and genetic analysis.

Authors: S L Sherman; N E Morton; P A Jacobs; G Turner
Journal: Ann Hum Genet Date: 1984-01 Impact factor: 1.670

5. The genetic linkage map of the human X chromosome.

Authors: D Drayna; R White
Journal: Science Date: 1985-11-15 Impact factor: 47.728

6. 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

7. X-linked mental retardation, macro-orchidism, and the Xq27 fragile site.

Authors: G Turner; A Daniel; M Frost
Journal: J Pediatr Date: 1980-05 Impact factor: 4.406

8. Further evidence for genetic heterogeneity in the fragile X syndrome.

Authors: W T Brown; E C Jenkins; A C Gross; C B Chan; M S Krawczun; C J Duncan; S L Sklower; G S Fisch
Journal: Hum Genet Date: 1987-04 Impact factor: 4.132

9. The fragile X syndrome in a large family. III. Investigations on linkage of flanking DNA markers with the fragile site Xq27.

Authors: H Veenema; N J Carpenter; E Bakker; M H Hofker; A M Ward; P L Pearson
Journal: J Med Genet Date: 1987-07 Impact factor: 6.318

10. A fragile X female with Down syndrome.

Authors: T Arinami; I Kondo; H Hamaguchi; K Tamura; T Hirano
Journal: Hum Genet Date: 1987-09 Impact factor: 4.132

9 in total

1. Estimating the stability of the proposed imprinted state of the fragile-X mutation when transmitted by females.

Authors: P J Follette; C D Laird
Journal: Hum Genet Date: 1992-01 Impact factor: 4.132

2. Fragile X expression and X inactivation. I. The expression of the fragile site at Xq27.3 is not suppressed on inactive X chromosomes separated from the active homologue.

Authors: D Wöhrle; J P Fryns; P Steinbach
Journal: Hum Genet Date: 1990-10 Impact factor: 4.132

Study of a family with a fragile site of the X chromosome at Xq27-28 without mental retardation.

1. Improved DNA markers for efficient analysis of fragile X families.

2. Genetic mapping of the Xq27-q28 region: new RFLP markers useful for diagnostic applications in fragile-X and hemophilia-B families.

3. Marker X chromosomes and mental retardation.

4. The marker (X) syndrome: a cytogenetic and genetic analysis.

5. The genetic linkage map of the human X chromosome.

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

7. X-linked mental retardation, macro-orchidism, and the Xq27 fragile site.

8. Further evidence for genetic heterogeneity in the fragile X syndrome.

9. The fragile X syndrome in a large family. III. Investigations on linkage of flanking DNA markers with the fragile site Xq27.

10. A fragile X female with Down syndrome.

1. Estimating the stability of the proposed imprinted state of the fragile-X mutation when transmitted by females.

2. Fragile X expression and X inactivation. I. The expression of the fragile site at Xq27.3 is not suppressed on inactive X chromosomes separated from the active homologue.

3. Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation.

4. Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap.

5. Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data.

6. Experience with direct molecular diagnosis of fragile X.

7. FRAXF in a patient with chromosome 8 duplication.

8. Physical map of human Xq27-qter: localizing the region of the fragile X mutation.

9. Why are autism and the fragile-X syndrome associated? Conceptual and methodological issues.