Angelman Syndrome
Emory University, Department of Human Genetics Details Research in Angelman Syndrome
Published in Pain and Central Nervous System Week, February 14th, 2011
2011 FEB 14 -- New investigation results, 'Allelic dropout can cause false-positive results for prader-willi and angelman syndrome testing,' are detailed in a study published in The Journal of Molecular Diagnostics. "The diagnosis of many genetic disorders relies on a combination of clinical suspicion and confirmatory genetic testing. Our laboratory uses a standard methylation-sensitive PCR (MSP) to target the differentially methylated SNRPN gene to test for Prader-Willi syndrome (PWS) and Angelman syndrome," researchers in the United States report.
"One patient, a 27-month-old female, who lacked the classical clinical features of PWS, but had a...
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