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Lint: fragile-x-syndrome

fragile-x-syndrome
Acronyms
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"The underlying genetic abnormality is an expansion of a trinucleotide repeat (CGG) in the 5` untranslated region fragile X messenger ribonucleoprotein 1 (FMR1) gene that encodes for the fragile X messenger ribonucleoprotein (FMRP) 1-3. This repeat is inherently unstable and can result in an expansion of the repeat during maternal transmission 3."

Line 43:229 · 'FMRP' has no definition. Spell it out if it's unfamiliar to the audience.

"When 55-200 repeats are present there are excessive levels of FMR1 mRNA transcription but despite this, the actual levels of FMRP are reduced 3. Generally, most premutation carriers are phenotypically normal, however, approximately 25% demonstrate some subtle physical changes 2. Emotional difficulties are also reported 2. Specific sex-dependent phenotypic manifestations are also encountered:"

Line 51:129 · 'FMRP' has no definition. Spell it out if it's unfamiliar to the audience.

"Once more than 200 repeats are present a cascade of events takes place resulting in the eventual methylation of the promoter region of the FMR1 gene which in turn silences the gene resulting in a lack of FMRP and resultant fragile X syndrome 2,3."

Line 60:208 · 'FMRP' has no definition. Spell it out if it's unfamiliar to the audience.

"At this time there are no accepted gene therapies or FMRP replacement therapies available, although both approaches are being researched."

Line 64:57 · 'FMRP' has no definition. Spell it out if it's unfamiliar to the audience.
Headings Case
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"Fragile X syndrome"

Line 59:5 · 'Fragile X syndrome' should use sentence-style capitalization.
Headings Valid
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Expected headings

  • H1 Terminology
  • H1 Usage
  • H1 Epidemiology
  • H2 Risk factors
  • H2 Associations
  • H1 Clinical presentation
  • H2 Complications
  • H1 Diagnosis
  • H2 Diagnostic criteria
  • H2 Diagnostic clues
  • H1 Pathology
  • H2 Aetiology
  • H2 Location
  • H2 Classification
  • H2 Macroscopic appearance
  • H2 Microscopic appearance
  • H2 Immunophenotype
  • H2 Markers
  • H2 Genetics
  • H1 Radiographic features
  • H2 Plain radiograph
  • H2 Mammography
  • H2 Antenatal ultrasound
  • H2 Transoesophageal echocardiography
  • H2 Ultrasound
  • H2 CT
  • H3 Dual-energy CT
  • H2 Angiography (DSA)
  • H2 MRI
  • H2 CT/MRI
  • H2 Nuclear medicine
  • H3 PET-CT
  • H3 PET-MRI
  • H1 Radiology report
  • H1 Treatment and prognosis
  • H2 Complications
  • H1 History and etymology
  • H1 Differential diagnosis
  • H2 Clinical differential diagnosis
  • H1 Practical points
  • H1 See also

"Premutation"

Line 50:1 · "Premutation" is not a recognised heading for this article type.

"Fragile X syndrome"

Line 59:1 · "Fragile X syndrome" is not a recognised heading for this article type.
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