Autor: |
Upadhyaya, M, Roberts, S H, Maynard, J, Sorour, E, Thompson, P W, Vaughan, M, Wilkie, A O, Hughes, H E |
Zdroj: |
Journal of Medical Genetics; Feb1996, Vol. 33 Issue 2, p148-152, 5p, 1 Color Photograph, 3 Black and White Photographs, 1 Chart |
Abstrakt: |
We report the first visible cytogenetic deletion involving the NF1 gene in a patient with sporadic neurofibromatosis, dysmorphic features, and marked developmental delay. The combined evidence of molecular and cytogenetic techniques based on dosage reduction, hemizygosity for microsatellite markers, high resolution G banding, and FISH analysis, predicts this deletion to be approximately 7 Mb in size. Our findings highlight the importance of conducting a detailed cytogenetic and FISH analysis in patients with NF1 who have additional dysmorphic features or particularly severe learning difficulties. [ABSTRACT FROM PUBLISHER] |
Databáze: |
Complementary Index |
Externí odkaz: |
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