We have located links that may give you full text access.
JOURNAL ARTICLE
RESEARCH SUPPORT, NON-U.S. GOV'T
Use of linked DNA probes for carrier detection and diagnosis of X-linked juvenile retinoschisis.
Archives of Ophthalmology 1988 October
Diagnosis of X-linked juvenile retinoschisis (RS) was made in two nonrelated Swedish individuals with restriction fragment length polymorphisms, using probes that flank the RS locus. The X chromosome of a 1-year-old male infant, at risk, displayed the same haplotype as an affected brother for restriction fragment length polymorphisms, representing five linked markers, which extended between the DXS164 and the DXS85 loci and encompassed the RS locus. The diagnosis was confirmed by a clinical examination and an electroretinogram. The X chromosomes of a pregnant woman, an offspring of a carrier female, showed a different haplotype to that of her affected brother, at three linked loci that flanked the RS gene. She was excluded as a carrier with a high probability; hence, the fetus was unlikely to inherit an abnormal gene for this X-linked trait. In informed families a DNA-based diagnosis can serve as a valuable complement to an electroretinogram and a clinical examination in the diagnosis of RS, since these carrier females cannot currently be identified by other means.
Full text links
Related Resources
Trending Papers
Proximal versus distal diuretics in congestive heart failure.Nephrology, Dialysis, Transplantation 2024 Februrary 30
Efficacy and safety of pharmacotherapy in chronic insomnia: A review of clinical guidelines and case reports.Mental Health Clinician 2023 October
World Health Organization and International Consensus Classification of eosinophilic disorders: 2024 update on diagnosis, risk stratification, and management.American Journal of Hematology 2024 March 30
Anti-Arrhythmic Effects of Heart Failure Guideline-Directed Medical Therapy and Their Role in the Prevention of Sudden Cardiac Death: From Beta-Blockers to Sodium-Glucose Cotransporter 2 Inhibitors and Beyond.Journal of Clinical Medicine 2024 Februrary 27
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app