Key references: Diagnosis of fragile X syndrome

Archibald AD, Smith MJ, Burgess T, Scarff KL, Elliott J, Hunt CE, et al. Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests. Genet Med 2018;20(5):513–23. https://www.ncbi.nlm.nih.gov/pubmed/29261177
Human Genetics Society of Australasia (HGSA). Best practice fragile X testing and analysis guidelines for Australasian laboratories. Sydney: HGSA; 2012.
Genetics Education in Medicine (GEM) Consortium. Fragile X syndrome and other causes of developmental delay. In: Genetics in family medicine: the Australian handbook for general practitioners. [Canberra]: Biotechnology Australia; 2007. http://www.nhmrc.gov.au/your-health/egenetics/health-practitioners/genetics-family-medicine-australian-handbook-general-prac
Metcalfe SA, Martyn M, Ames A, Anderson V, Archibald AD, Couns GDG, et al. Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening. Genet Med 2017;19(12):1346–55. https://www.ncbi.nlm.nih.gov/pubmed/28661491
Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG). Prenatal screening for chromosomal and genetic conditions. Melbourne: RANZCOG; Accessed https://ranzcog.edu.au/womens-health/patient-information-resources/prenatal-screening-for-chromosomal-and-genetic-con
Royal Australian College of General Practitioners (RACGP). Genomics in general practice. Melbourne: RACGP; 2018. https://www.racgp.org.au/clinical-resources/clinical-guidelines/key-racgp-guidelines/view-all-racgp-guidelines/genomics-in-general-practice
Sherman S, Pletcher BA, Driscoll DA. Fragile X syndrome: diagnostic and carrier testing. Genet Med 2005;7(8):584–7. https://www.ncbi.nlm.nih.gov/pubmed/16247297
Sherman SL. Premature ovarian failure in the fragile X syndrome. Am J Med Genet 2000;97(3):189–94. https://www.ncbi.nlm.nih.gov/pubmed/11449487