Deutsch
IllnessFragile-X syndrome
Summary
Short information
Curated analysis of the full mutation in the FMR1 gene (>200 CGG repeats)
ID
FX0300
Number of genes
1
Accredited laboratory test
Examined sequence length
1,9 kb (Core-/Core-canditate-Genes)
- (Extended panel: incl. additional genes)
- (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
- EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications
X
[very rarely point mutations in the FMRI gene]
Gene panel
Selected genes
| Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
|---|---|---|---|---|
| FMR1 | 1899 | NM_002024.6 | XL |
Informations about the disease
Clinical Comment
Mild/severe intellectual deficit, behavioral disorders + characteristic physical features, high forehead, prominent + large ears, hyperextensible finger joints, flat feet with pronation, in adolescent + adult males macroorchidism.
Synonyms
- Allelic: Premature ovarian failure 1 (FMR1_CGG)
- FRAXA syndrome (FMR1_CGG, FMR1)
- Fragile X syndrome, FXS (FMR1_CGG, FMR1)
- Fragile X tremor/ataxia syndrome FXTAS (FMR1_CGG)
- Marker X syndrome (FMR1_CGG, FMR1)
- Martin-Bell syndrome (FMR1_CCG, FMR1)
Heredity, heredity patterns etc.
- XL
OMIM-Ps
ICD10 Code
Q99.2
Bioinformatics and clinical interpretation
No text defined