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[Epidemiological aspects of trisomy 21]
Journal De Genetique Humaine
|October 1, 1975
Summary
This study analyzes 4760 Down syndrome (trisomy 21) cases across Europe. Maternal age is a key factor in trisomy 21 occurrence, with other epidemiological influences also examined.
Area of Science:
- Human Genetics
- Reproductive Epidemiology
- Cytogenetics
Context:
- Analyzed 4760 cases of trisomy 21 from 22 European centers.
- Investigated cytogenetic and epidemiological data for Down syndrome.
- Utilized chromosome marking techniques for translocation identification.
Purpose:
- Determine the frequency of different trisomy 21 types (free trisomies, mosaics, translocations).
- Assess recurrence risks and causes.
- Examine epidemiological factors influencing trisomy 21, particularly maternal age.
Summary:
- Cytogenetic analysis revealed frequencies of regular trisomy 21, mosaic forms, and translocations.
- Epidemiological data confirmed a bimodal distribution of trisomy 21, strongly linked to maternal age.
- Other factors like X-ray exposure, viral infections, autoimmunity, and gynecological disorders were discussed.
Impact:
- Provides comprehensive data on trisomy 21 cytogenetics and epidemiology in Europe.
- Highlights the significant role of maternal age and other factors in Down syndrome occurrence.
- Informs genetic counseling and risk assessment for families.