Article
Allelic dropout can cause false-positive results for Prader-Willi and Angelman syndrome testing.
The Journal of molecular diagnostics : JMD - 1 Jan 2011
Hussain Askree Syed, Hjelm Lawrence N, Ali Pervaiz Muhammad, Adam Margaret, Bean Lora J H, Hedge Madhuri, Coffee Bradford
Abstract excerpt
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. One patient, a 27-month-old female, who lacked the classical clinical features of PWS, but had a molecular diagnosis of...
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