Fragile X Syndrome
What's New
Last Posted: Mar 19, 2020
- Re-evaluating the first-tier status of fragile X testing in neurodevelopmental disorders.
Borch Lauren A et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Mar - Fragile X-associated conditions: implications for the whole family.
McKechanie Andrew G et al. The British journal of general practice : the journal of the Royal College of General Practitioners 2019 Sep 69(686) 460-461 - Challenges in molecular diagnosis of X-linked Intellectual disability.
De Luca Chiara et al. British medical bulletin 2020 Feb - Fragile X syndrome: clinical presentation, pathology and treatment.
Salcedo-Arellano María Jimena et al. Gaceta medica de Mexico 2020 156(1) 60-66 - Cascade Testing for Fragile X Syndrome in a Rural Setting in Cameroon (Sub-Saharan Africa).
Kengne Kamga Karen et al. Genes 2020 Jan 11(2) - Validation of Fragile X Screening in the Newborn Population Using a Fit-for-Purpose FMR1 PCR Assay System.
Lee Stacey et al. The Journal of molecular diagnostics : JMD 2019 Dec - Item of Interest: Now Available: NIH Research Plan on Fragile X and Associated Conditions
NIH, November 2019 - Fragile X syndrome carrier screening accompanied by genetic consultation has clinical utility in populations beyond those recommended by guidelines.
Johansen Taber Katherine et al. Molecular genetics & genomic medicine 2019 Nov e1024 - New genetic analysis improves diagnosis of intellectual disability
Karolinska Institute, November 11, 2019 - Fragile X syndrome carrier screening in pregnant women in Chinese Han population.
Hung Chia-Cheng et al. Scientific reports 2019 Oct 9(1) 15456 - Was the Human Genome Project a dud?
EF Torrey, Dallas Morning News, October 13, 2019 - [Prenatal diagnosis for 30 women carrying a FMR1 mutation].
Huang Wen et al. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2019 Sep 36(9) 866-869 - The wild west of prenatal genetic testing
A Ramchandani, Mashable, August 2019 - Impact of on-site clinical genetics consultations on diagnostic rate in children and young adults with autism spectrum disorder.
Munnich Arnold et al. Molecular autism 2019 1033 - Preventive care services and health behaviors in children with fragile X syndrome.
Gilbertson Kendra E et al. Disability and health journal 2019 May
Content Summary
- CDC Information (11)
- NIH Information (5)
- CDC Publications (5)
- Human Genome Epidemiologic Studies (145)
- GWAS Studies (1)
- Human Genomics Translation/Implementation Studies (61)
- Genomic Tests Evidence Synthesis (6)
- Genomic Tests Guidelines (4)
- Tier-Classified Guidelines (2)
- State Public Health Genomics Programs (2)
- Reviews/Commentaries (43)
- Ethical/Legal and Social Issues (ELSI) (2)
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Mar 16, 2019
- Page last updated:Jul 06, 2020
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