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 | Zendy

Yoshimi Inaba | Zendy; Amy S. Herlihy | Zendy; Charles E. Schwartz | Zendy; Cindy Skinner | Zendy; Minh Bui | Zendy; Joanna Cobb | Zendy; E. Shi | Zendy; David Francis | Zendy; Alison Arvaj | Zendy; David J. Amor | Zendy; Kate Pope | Zendy; Tiffany Wotton | Zendy; Jonathan Cohen | Zendy; Jacqueline Hewitt | Zendy; Randi J. Hagerman | Zendy; Sylvia A. Metcalfe | Zendy; John L. Hopper | Zendy; Danuta Z. Loesch | Zendy; Howard R. Slater | Zendy; David E. Godler | Zendy

Open Access

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

Author(s) -

Yoshimi Inaba,

Amy S. Herlihy,

Charles E. Schwartz,

Cindy Skinner,

Minh Bui,

Joanna Cobb,

E. Shi,

David Francis,

Alison Arvaj,

David J. Amor,

Kate Pope,

Tiffany Wotton,

Jonathan Cohen,

Jacqueline Hewitt,

Randi J. Hagerman,

Sylvia A. Metcalfe,

John L. Hopper,

Danuta Z. Loesch,

Howard R. Slater,

David E. Godler

Publication year - 2012

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2012.134

Subject(s) - testis determining factor , klinefelter syndrome , aneuploidy , x chromosome , genetics , epigenetics , biology , karyotype , fragile x syndrome , dna methylation , chromosome , y chromosome , endocrinology , gene , gene expression

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.

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