Use of Linked DNA Probes for Carrier Detection and Diagnosis of X-linked Juvenile Retinoschisis

Dahl, Niklas; Pettersson, Ulf

doi:10.1001/archopht.1988.01060140578026

Cited by 6 publications

(3 citation statements)

References 19 publications

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“…Several linkage studies in RS have been previously reported.4 911 [16][17][18][19][20] The disease gene has been already assigned to the distal short arm of the X chromosome (Xp22.2) between DXS43 and DXS41. In the study by Dahl et al, 1 l the peak lod scores using the DXS43 and DXS41 markers were 4-98 and 4-08 respectively at a recombination fraction (0) of zero.…”

Section: Resultsmentioning

confidence: 99%

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Contribution to carrier detection and genetic counselling in X linked retinoschisis.

Kaplan

Pelet

Hentati

et al. 1991

Journal of Medical Genetics

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Section: Resultsmentioning

confidence: 99%

“…Blood samples were obtained from 74 subjects from the seven families studied (20 affected males, 17 obligate carriers, 11 possible carriers, 19 healthy males, and seven husbands and wives), corresponding to 57 meiotic events.…”

mentioning

confidence: 99%

Contribution to carrier detection and genetic counselling in X linked retinoschisis.

Kaplan

Pelet

Hentati

et al. 1991

Journal of Medical Genetics

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“…Electrophysiological examinations (Tanino et al 1985;Vesti et al 1992) and linkage analysis (Alitalo et al 1988;Alitalo 1990) may be decisive when ordinary clinical examinations are inconclusive. Genetic linkage techniques are also used for prenatal diagnosing and carrier detection (Arden et al 1988;Dahl & Pettersson 1988).…”

Section: Discussionmentioning

confidence: 99%

Visual impairment in Nordic children

Sl¹,

Flage²,

Hansen³

et al. 1993

Acta Ophthalmologica

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In a study on 2,527 visually impaired children from four Nordic countries X-linked juvenile retinoschisis was diagnosed in 35 male children. Striking differences in frequency between the four countries were found, with 26 cases reported from Finland, 5 cases from Denmark, and 4 cases from Norway. None was reported from Iceland. The corresponding age and sex-specific prevalence rates of X-linked juvenile retinoschisis (N:1,000,000) were 44.5 in Finland, 8.8 in Denmark, and 7.9 in Norway. The uneven geographical distribution is possibly attributed to a 'founder effect' due to the settlements in Finland by European immigrants in the 17th century. The visual impairment of the registered cases was usually mild with 91.4% falling into WHO category 1. However, one child was totally blind, demonstrating large phenotypic heterogeneity. None of our cases had additional impairments. The majority were more than five years old, indicating a progressive course during childhood. Nevertheless, two children were diagnosed at the age of one. The most common age at registration was seven years, coinciding with the beginning of school attendance.

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