Prenatal diagnosis of fragile X syndrome complicated by full mutation retraction

Am J Med Genet A. 2015 Oct;167A(10):2485-7. doi: 10.1002/ajmg.a.37163. Epub 2015 May 18.

Authors

Zornitza Stark¹, David Francis¹, Lydia Gaffney¹, Jacqueline Greenberg¹, Louise Hills¹, Xin Li², David E Godler², Howard R Slater^{1

2}

Affiliations

¹ Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Melbourne, Australia.
² Cyto-molecular Diagnostic Research Laboratory, Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.

PMID: 25988754
DOI: 10.1002/ajmg.a.37163

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Alleles
DNA Methylation
Female
Fetus
Fragile X Mental Retardation Protein / genetics*
Fragile X Syndrome / diagnosis*
Fragile X Syndrome / genetics*
Fragile X Syndrome / pathology
Gene Expression
Humans
Male
Mutation*
Pregnancy
Prenatal Diagnosis
Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
Trinucleotide Repeat Expansion*

Substances

FMR1 protein, human
Fragile X Mental Retardation Protein