We studied a family with 11 males having X-linked mental retardation (XLMR) using microsatellite markers. Aside from the mental retardation, the affected males do not appear to differ from their unaffected brothers or uncles. The gene for this XLMR condition has been linked to DXS451 in Xp22.13 with a lod score of 5.18 at straight theta = 0. Recombination was detected at DXS992 (Xp21.3) and DXS1053 (Xp22.2), thereby defining the limits of the localization. This family is considered to have nonsyndromic XLMR and has been assigned the designation MRX32.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/(sici)1096-8628(19990730)85:3<271::aid-ajmg17>3.3.co;2-r | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Comparison of Unaided and Aided Visual Acuity in Adults With Down Syndrome.
Transl Vis Sci Technol
January 2025
The Ohio State University College of Optometry, Columbus, OH, USA.
Purpose: Individuals with Down syndrome (DS) have reduced visual acuity (VA), even when wearing refractive correction. The relationship between refractive error and VA in adults with DS is explored.
Methods: Thirty adults with DS (age = 29 ± 10 years) were enrolled in a trial comparing clinical and objectively determined refractions.
Neuropsychiatric profile in tuberous sclerosis complex patients with epilepsy.
Front Pediatr
January 2025
Division of Pediatric Neurology, Sidra Medicine, Doha, Qatar.
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant disorder characterized by mutations in the or genes, leading to dysregulation of the mTOR pathway and multisystemic manifestations. Epilepsy is a common neurologic feature of TSC, frequently accompanied by neuropsychiatric comorbidities. Understanding the relationship between epilepsy severity, TSC-associated neuropsychiatric disorders (TAND), and cognitive outcomes is crucial for optimizing patient care.
View Article and Find Full Text PDFIQ thresholds and influence of the assessor's professional discipline on fitness to stand trial assessment outcomes in Aotearoa New Zealand.
Psychiatr Psychol Law
January 2024
Regional Forensic Psychiatric Services (Mason Clinic/Te Whatu Ora), Auckland, New Zealand.
There is considerable variability in fitness to stand trial (FST) findings between assessors, which may potentially influence the courts' decisions for defendants with intellectual disability (ID). This study aims to determine the influence of the defendant's intelligence quotient (IQ) score and the assessor's professional discipline on FST findings and court outcomes for ID defendants in Aotearoa New Zealand. This study included 146 defendants with ID who were assessed between 2005 and 2015.
View Article and Find Full Text PDFIntravenous Sedation in a Patient With Sotos Syndrome and Intellectual Disability: A Case Report.
Cureus
December 2024
Department of Anesthesiology, Aichi Gakuin University, Nagoya, JPN.
Sotos syndrome is a genetic disorder characterized by distinct facial features, intellectual disability, and overgrowth. In this case, a patient with Sotos syndrome presented with severe intellectual disability, for which general anesthesia was initially considered. However, at the request of the patient's guardian, the treatment was performed under intravenous sedation.
View Article and Find Full Text PDFThe Role of Neck Ultrasonography and Nuclear Imaging in the Diagnosis of Congenital Hypothyroidism.
Indian J Endocrinol Metab
December 2024
Department of Endocrinology, Madurai Medical College and Govt. Rajaji Hospital, Madurai, Tamil Nadu, India.
Introduction: Congenital hypothyroidism (CH) is the most common preventable cause of mental retardation, and the two important causes of CH are thyroid dysgenesis and dyshormonogenesis. Thyroid imaging is an integral part of identifying the specific aetiology of CH. We aimed to study the aetiological profile of CH and compare the imaging findings of ultrasonography (USG) and nuclear scintigraphy.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!