Publications by authors named "Christopher Trevors"
Article Synopsis
- - The demand for genetic testing in Canada is rising due to increasing awareness of genetic links to diseases, leading to a growing but unregulated field of genetic counseling.
- - A study conducted in Ontario assessed whether genetic counselors fit the criteria for regulation set by the Ministry of Health, focusing on their clinical independence and potential risks to patients.
- - Results showed that many genetic counselors, especially in cancer care, operate with significant autonomy and low oversight, supporting the idea that regulation of the profession may be necessary to protect public health.
Objective: To report our experience of the prenatal diagnosis of X-linked dominant chondrodysplasia punctata (CDPX2) and highlight its variable phenotypic presentation.
Methods: We report the sonographic features of three female fetuses affected with CDPX2. The ultrasound, radiographic and pathological findings were compared.
Purpose: Smith-Magenis syndrome (SMS) is a complex disorder that includes mental retardation, craniofacial and skeletal anomalies, and behavioral abnormalities. We report the molecular and genotype-phenotype analyses of 31 patients with SMS who carry 17p11.2 deletions or mutations in the RAI1 gene.
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