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Literature DB >> 6586635

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

J Paul, U Froster-Iskenius, W Moje, E Schwinger.

Abstract

The IQ levels of 18 female carriers with the marker X chromosome were evaluated, and cytogenetic studies after BrdU incorporation were performed. A highly significant correlation between mental capacity and replication pattern of the X chromosomes could be demonstrated. Heterozygous females with normal intelligence showed a clear tendency to carry the fragile site at the late replicating X chromosome, while other female carriers with lower intelligence or mental impairment expressed their fragile site mainly with the early replicating X chromosome. This observation could be interpreted as an expression of Lyonisation .

Entities: Disease

Mesh：

Substances：
Genetic Markers

Year: 1984 PMID： 6586635 DOI： 10.1007/bf00287638

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

18 in total

1. The fragile X(q27) form of X-linked mental retardation: FUdR as an inducing agent for fra(X)(q27) expression in lymphocytes, fibroblasts, and amniocytes.

Authors: R Brookwell; A Daniel; G Turner; J Fishburn
Journal: Am J Med Genet Date: 1982-10

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

4. 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

5. Replication status of the fragile X chromosome, fra(X)(q27), in three heterozygous females.

Authors: R T Howell; A McDermott
Journal: Hum Genet Date: 1982 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. 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

8. Additional evidence for fragile X activity in heterozygous carriers.

Authors: I A Uchida; V C Freeman; H Jamro; M W Partington; H C Soltan
Journal: Am J Hum Genet Date: 1983-09 Impact factor: 11.025

9. Carrier detection and X-inactivation studies in the fragile X syndrome. Cytogenetic studies in 63 obligate and potential carriers of the fragile X.

Authors: K B Nielsen; N Tommerup; H Poulsen; P Jacobsen; B Beck; M Mikkelsen
Journal: Hum Genet Date: 1983 Impact factor: 4.132

10. 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

18 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. Parental inheritance and psychological disability in fragile X females.

Authors: A L Reiss; L Freund; S Vinogradov; R Hagerman; A Cronister
Journal: Am J Hum Genet Date: 1989-11 Impact factor: 11.025

3. Mental status of females with an FMR1 gene full mutation.

Authors: B B de Vries; A M Wiegers; A P Smits; S Mohkamsing; H J Duivenvoorden; J P Fryns; L M Curfs; D J Halley; B A Oostra; A M van den Ouweland; M F Niermeijer
Journal: Am J Hum Genet Date: 1996-05 Impact factor: 11.025

4. 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