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Fragile X testing in a diagnostic cytogenetics laboratory.
L E Voullaire1, G C Webb, M Leversha
1Department of Genetics, Royal Children's Hospital, Parkville, Victoria, Australia.
Journal of Medical Genetics
|July 1, 1989
Summary
Chromosomal abnormalities, including fragile X syndrome, were identified in 84 of 1012 patients with unexplained developmental delay. These findings support continued genetic testing for developmental disorders.
Area of Science:
- Medical Genetics
- Human Genetics
- Developmental Biology
Background:
- Developmental delay affects a significant number of children, often with unknown etiology.
- Chromosomal abnormalities are a known cause of developmental delay.
- Fragile X syndrome is a common genetic cause of intellectual disability.
Purpose of the Study:
- To investigate the yield of chromosomal analysis in patients with unexplained developmental delay.
- To determine the prevalence of fragile X syndrome and other chromosomal abnormalities in this cohort.
- To assess the diagnostic utility of G banding and fragile X testing.
Main Methods:
- Retrospective analysis of chromosome results from 1012 patients.
- G banding cytogenetic analysis.
- Fragile X testing (70-cell assessment).
Main Results:
- Abnormal chromosomal results were found in 84 out of 1012 patients (8.3%).
- Fragile X syndrome was diagnosed in 31 patients.
- Other chromosomal abnormalities were identified in 53 patients.
- Family studies identified an additional 16 individuals with fragile X.
Conclusions:
- Cytogenetic analysis, including fragile X testing, is valuable for diagnosing developmental delay of unknown cause.
- The detection rate of chromosomal abnormalities in this cohort supports the continued use of these diagnostic procedures.
- Identifying chromosomal abnormalities can have implications for genetic counseling and family planning.