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Literature DB >> 6682403

Screening for fra(X)(q) in a population of mentally retarded males.

U Froster-Iskenius, G Felsch, C Schirren, E Schwinger.

Abstract

Among 242 institutionalized mentally retarded males in Northern Germany screened for fra(X)(q), 15 (6.2%) with severe mental retardation expressing fra(X)(q) were detected. One patient displayed Klinefelter's syndrome in addition. All fra(X)(q) males showed the typical facial signs, but three of the adults did not express macroorchidism. A preliminary estimation of an overall frequency of 1:2000 males for the fra(X)(q) condition is suggested.

Entities: Disease Species

Mesh：

Year: 1983 PMID： 6682403 DOI： 10.1007/bf00291535

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

20 in total

1. Familial sex-linked mental retardation.

Authors: H RENPENNING; J W GERRARD; W A ZALESKI; T TABATA
Journal: Can Med Assoc J Date: 1962-11-03 Impact factor: 8.262

2. An anatomic approach to the obtrusive ear.

Authors: L R RUBIN; B E BROMBERG; R H WALDEN; A ADAMS
Journal: Plast Reconstr Surg Transplant Bull Date: 1962-04

3. Cytological mapping of human chromosomes: results obtained with quinacrine fluorescence and the acetic-saline-Giemsa techniques.

Authors: H J Evans; K E Buckton; A T Sumner
Journal: Chromosoma Date: 1971 Impact factor: 4.316

4. More on marker X chromosomes, mental retardation and macro-orchidism.

Authors: P A Jacobs; M Mayer; E Rudak; J Gerrard; E J Ives; M H Shokeir; J Hall; M Jennings; H Hoehn
Journal: N Engl J Med Date: 1979-03-29 Impact factor: 91.245

5. 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

6. Fragile site X chromosomes and X-linked mental retardation in severely retarded boys in a northern Swedish county. A prevalence study.

Authors: H K Blomquist; K H Gustavson; G Holmgren; I Nordenson; A Sweins
Journal: Clin Genet Date: 1982-03 Impact factor: 4.438

7. Replication pattern in XXY cells with fra(X).

Authors: U Froster-Iskenius; E Schwinger; M Weigert; C Fonatsch
Journal: Hum Genet Date: 1982 Impact factor: 4.132

8. 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

9. 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

10. Further delineation of X-linked mental retardation.

Authors: D S Herbst; H G Dunn; F J Dill; D K Kalousek; L W Krywaniuk
Journal: Hum Genet Date: 1981 Impact factor: 4.132

21 in total

1. Linkage studies of X-linked mental retardation: high frequency of recombination in the telomeric region of the human X chromosome (fragile site/linkage/recombination/X chromosome).

Authors: K E Davies; M G Mattei; J F Mattei; H Veenema; S McGlade; K Harper; N Tommerup; K B Nielsen; M Mikkelsen; P Beighton
Journal: Hum Genet Date: 1985 Impact factor: 4.132

2. Cytological evidence of defective template in the fragile X chromosome.

Authors: B Kerem; R Goitein; T Schaap
Journal: Chromosoma Date: 1988 Impact factor: 4.316

3. Spermatogenesis in two patients with the fragile X syndrome. II. First meiosis: light and electron microscopy.

Authors: R Johannisson; U Froster-Iskenius; N Saadallah; M A Hultén
Journal: Hum Genet Date: 1988-07 Impact factor: 4.132

4. Linkage studies in a large fragile X family.

Authors: M Patterson; M Bell; W Kress; K E Davies; U Froster-Iskenius
Journal: Am J Hum Genet Date: 1988-11 Impact factor: 11.025

5. Linkage analysis using multiple Xq DNA polymorphisms in normal families, families with the fragile X syndrome, and other families with X linked conditions.

Authors: J M Connor; L A Pirrit; J R Yates; J A Crossley; S J Imrie; J M Colgan
Journal: J Med Genet Date: 1987-01 Impact factor: 6.318

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

Authors: P Vieregge; U Froster-Iskenius
Journal: J Neurol Date: 1989-02 Impact factor: 4.849

7. A community study of severe mental retardation in the West Midlands and the importance of the fragile X chromosome in its aetiology.

Authors: S Bundey; T P Webb; A Thake; J Todd
Journal: J Med Genet Date: 1985-08 Impact factor: 6.318

8. Prevalence of the fragile X syndrome in four birth cohorts of children of school age.

Authors: M Kähkönen; T Alitalo; E Airaksinen; R Matilainen; K Launiala; S Autio; J Leisti
Journal: Hum Genet Date: 1987-09 Impact factor: 4.132

9. Clinical and cytogenetic survey of institutionalized mentally retarded patients with emphasis on the fragile-X syndrome.

Authors: M G Butler; D N Singh
Journal: J Intellect Disabil Res Date: 1993-04

Review 10. 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