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Literature DB >> 6614002

Additional evidence for fragile X activity in heterozygous carriers.

I A Uchida, V C Freeman, H Jamro, M W Partington, H C Soltan.

Abstract

The result of a previous study showing an association between mental development and fragile X activity in heterozygous females is given further support by similar investigations of three additional kindreds. The increased frequency of demonstrable fragile X chromosomes in mentally retarded females appears to be due to an increase in the active fragile X while the inactive marker X remains at a similar low frequency in all heterozygotes whether retarded or not. The frequencies of the active fragile X separated the normal and abnormal subjects into two distinct populations. The suggested inverse correlation between the number of lymphocytes with detectable fragile X chromosomes and advancing age can be attributed to ascertainment biases.

Entities: Disease

Mesh：

Year: 1983 PMID： 6614002 PMCID： PMC1685813

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

9 in total

1. Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium.

Authors: G R Sutherland
Journal: Science Date: 1977-07-15 Impact factor: 47.728

2. Fragile X-linked mental retardation. A survey of 65 patients with mental retardation of unknown origin.

Authors: N J Carpenter; L G Leichtman; B Say
Journal: Am J Dis Child Date: 1982-05

3. X-linked mental retardation: a study of 7 families.

Authors: P A Jacobs; T W Glover; M Mayer; P Fox; J W Gerrard; H G Dunn; D S Herbst
Journal: Am J Med Genet Date: 1980

4. 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

5. Heritable fragile sites on human chromosomes. III. Detection of fra(X)(q27) in males with X-linked mental retardation and in their female relatives.

Authors: G R Sutherland
Journal: Hum Genet Date: 1979 Impact factor: 4.132

6. Activity of the fragile X in heterozygous carriers.

Authors: I A Uchida; E M Joyce
Journal: Am J Hum Genet Date: 1982-03 Impact factor: 11.025

Review 7. Nonspecific X-linked mental retardation I: a review with information from 24 new families.

Authors: D S Herbst
Journal: Am J Med Genet Date: 1980

8. Fragile sites in human chromosomes II: demonstration of the fragile site Xq27 in carriers of X-linked mental retardation.

Authors: P N Howard-Peebles
Journal: Am J Med Genet Date: 1980

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

9 in total

12 in total

1. Replication patterns of the fragile X in heterozygous carriers: analysis by a BrdUrd antibody method.

Authors: H Ohashi; A Kuwano; M Tsukahara; T Arinami; T Kajii
Journal: Am J Hum Genet Date: 1990-12 Impact factor: 11.025

2. Mental retardation in heterozygotes for the fragile-X mutation: evidence in favor of an X inactivation-dependent effect.

Authors: M Rocchi; N Archidiacono; A Rinaldi; G Filippi; G Bartolucci; G S Fancello; M Siniscalco
Journal: Am J Hum Genet Date: 1990-04 Impact factor: 11.025

Additional evidence for fragile X activity in heterozygous carriers.

1. Fragile sites on human chromosomes: demonstration of their dependence on the type of tissue culture medium.

2. Fragile X-linked mental retardation. A survey of 65 patients with mental retardation of unknown origin.

3. X-linked mental retardation: a study of 7 families.

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

5. Heritable fragile sites on human chromosomes. III. Detection of fra(X)(q27) in males with X-linked mental retardation and in their female relatives.

6. Activity of the fragile X in heterozygous carriers.

Review 7. Nonspecific X-linked mental retardation I: a review with information from 24 new families.

8. Fragile sites in human chromosomes II: demonstration of the fragile site Xq27 in carriers of X-linked mental retardation.

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

1. Replication patterns of the fragile X in heterozygous carriers: analysis by a BrdUrd antibody method.

2. Mental retardation in heterozygotes for the fragile-X mutation: evidence in favor of an X inactivation-dependent effect.

3. Replication status of fragile X(q27.3) in 13 female heterozygotes.

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

5. Verification of Lyon's hypothesis in fragile X carriers.

6. Heterozygous female carriers of the marker-X-chromosome: IQ estimation and replication status of fra(X)(q).

7. Transmission of the marker X syndrome trait by unaffected males: conclusions from studies of large families.

8. Fragile Xq27.3 in female heterozygotes for the Martin-Bell syndrome.

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

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