Article
Fragile X-related element 2 methylation analysis may provide a suitable option for inclusion of fragile X syndrome and/or sex chromosome aneuploidy into newborn screening: a technical validation study.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Apr 2013
Inaba Yoshimi, Herlihy Amy S, Schwartz Charles E, Skinner Cindy, Bui Quang M, Cobb Joanna, Shi Elva Z, Francis David, Arvaj Alison, Amor David J, Pope Kate, Wotton Tiffany, Cohen Jonathan, Hewitt Jacqueline K, Hagerman Randi J, Metcalfe Sylvia A, Hopper John L, Loesch Danuta Z, Slater Howard R, Godler David E
Abstract excerpt
PURPOSE: We show that a novel fragile X-related epigenetic element 2 FMR1 methylation test can be used along with a test for sex-determining region Y (SRY) to provide the option of combined fragile X syndrome and sex chromosome aneuploidy newborn screening. METHODS: Fragile X-related epigenetic e...
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