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[The fragile X (Martin-Bell) syndrome]
L Zergollern-Cupak1, Z Sabol, V Hitrec
1Klinika za djecje bolesti, Medicinski fakultet Sveucilista u Zagrebu.
Lijecnicki Vjesnik
|November 1, 1990
Summary
Fragile X (FRAX) syndrome, the most common inherited cause of intellectual disability, affects 1 in 1000-2000 newborns. This study identifies FRAX syndrome in two families, noting the percentage of affected cells doesn't correlate with intellectual disability severity.
Area of Science:
- Genetics
- Clinical Medicine
- Developmental Biology
Background:
- Fragile X (FRAX) syndrome is the most common X-linked intellectual disability, affecting 1 in 1000-2000 live male births.
- It is characterized by specific phenotypic features and intellectual disability, often associated with cytogenetic abnormalities on the X chromosome, particularly at band q27.3.
Observation:
- This report details two families diagnosed with FRAX syndrome.
- Affected individuals presented with intellectual disability and characteristic features; one also exhibited autism symptoms.
- Mothers were identified as heterozygous carriers.
Findings:
- Cytogenetic analysis confirmed FRAX syndrome in affected males.
- The percentage of cells exhibiting the FRAX chromosome (18-30%) did not correlate with the degree of intellectual disability in the patients.
- Carrier mothers showed lower percentages of FRAX cells (1.5-3%).
Implications:
- Early diagnosis and genetic counseling are crucial for families with FRAX syndrome.
- Prenatal diagnosis is feasible through amniotic fluid or umbilical cord blood analysis.
- Understanding the variable expressivity of FRAX syndrome is important for patient management and prognosis.