Fragile X syndrome: Difference between revisions
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The diagnosis of Fragile X Syndrome is based upon detection of an alteration in the fragile X mental retardation 1 (FMR1) gene. <ref name="pmid28420439">{{cite journal| author=Ciaccio C, Fontana L, Milani D, Tabano S, Miozzo M, Esposito S| title=Fragile X syndrome: a review of clinical and molecular diagnoses. | journal=Ital J Pediatr | year= 2017 | volume= 43 | issue= 1 | pages= 39 | pmid=28420439 | doi=10.1186/s13052-017-0355-y | pmc=5395755 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28420439 }} </ref> | The diagnosis of Fragile X Syndrome is based upon detection of an alteration in the fragile X mental retardation 1 (FMR1) gene. <ref name="pmid28420439">{{cite journal| author=Ciaccio C, Fontana L, Milani D, Tabano S, Miozzo M, Esposito S| title=Fragile X syndrome: a review of clinical and molecular diagnoses. | journal=Ital J Pediatr | year= 2017 | volume= 43 | issue= 1 | pages= 39 | pmid=28420439 | doi=10.1186/s13052-017-0355-y | pmc=5395755 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28420439 }} </ref> | ||
===History and Symptoms=== | ===History and Symptoms=== | ||
===Physical Examination=== | ===Physical Examination=== |
Revision as of 19:18, 2 September 2021
For patient information click here
Fragile X syndrome | |
Location of FMR1 gene | |
ICD-10 | Q99.2 |
ICD-9 | 759.83 |
OMIM | 309550 |
DiseasesDB | 4973 |
MeSH | D005600 |
Fragile X syndrome Microchapters |
Diagnosis |
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Treatment |
Case Studies |
Fragile X syndrome On the Web |
American Roentgen Ray Society Images of Fragile X syndrome |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords:: Martin-bell syndrome; marker X syndrome, escalante's syndrome
Overview
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Fragile X syndrome from other Diseases
Fragile X syndrome must be differentiated from Autism Spectrum Disorder, Attention deficit hyperactivity disorder (ADHD), Fragile XE syndrome (FRAXE), Klinefelter syndrome and Prader-Willi syndrome (PWS).[1]
Epidemiology and Demographics
Risk Factors
There are no established risk factors for Fragile X syndrome. However, the child with family history of Fragile x Syndrome, autism disorder of unknown cause, developmental delay, adult onset ataxia/tremor or any intellectual disabilities are at greater risk of developing the disorder. [2]
Screening
Genetic counseling and prenatal screening is recommended when one of the parents is shown to be a carrier of fragile X. Prenatal testing can be done by amniocentesis at 16-20 weeks or by chorionic villus sampling (CVS) at 10-13 weeks to determine if a fetus has inherited the fragile X gene. [3]
Natural History, Complications and Prognosis
Diagnosis
The diagnosis of Fragile X Syndrome is based upon detection of an alteration in the fragile X mental retardation 1 (FMR1) gene. [4]
History and Symptoms
Physical Examination
Laboratory findings
Other diagnostic studies
Treatment
Medical Therapy | Primary Prevention | Secondary Prevention | Cost Effectiveness of Therapy | Future or Investigational Therapies
Case Studies
External links
Template:Pervasive developmental disorders Template:Chromosomal abnormalities
- ↑ Wiesner GL, Cassidy SB, Grimes SJ, Matthews AL, Acheson LS (2004). "Clinical consult: developmental delay/fragile X syndrome". Prim Care. 31 (3): 621–5, x. doi:10.1016/j.pop.2004.04.008. PMID 15331251.
- ↑ 1. Carrier Testing for Fragile X Syndrome [Internet]. ucsfhealth.org. [cited 2021 Jul 15]. Available from: https://www.ucsfhealth.org/Education/Carrier Testing for Fragile X Syndrome
- ↑ Mak AS, Leung KY (2017). "Challenges in prenatal screening and counselling for fragile X syndrome". Hong Kong Med J. 23 (2): 108–9. doi:10.12809/hkmj175064. PMID 28387201.
- ↑ Ciaccio C, Fontana L, Milani D, Tabano S, Miozzo M, Esposito S (2017). "Fragile X syndrome: a review of clinical and molecular diagnoses". Ital J Pediatr. 43 (1): 39. doi:10.1186/s13052-017-0355-y. PMC 5395755. PMID 28420439.