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Down syndrome and associated congenital malformations.
1Department of Oral Sciences and Institute of Human Genetics, University of Minnesota, Minneapolis, MN 55455, USA. burt@umn.edu
Journal of Neural Transmission. Supplementum
|April 8, 2004
Summary
Individuals with Down syndrome (DS) have significantly higher rates of congenital malformations compared to the general population. This suggests that the trisomic state in DS may amplify the effects of environmental teratogens.
Area of Science:
- Genetics
- Developmental Biology
- Pediatrics
Background:
- Congenital malformations are more prevalent in individuals with Down syndrome (DS) than in the general population.
- The range of defects observed in DS is comparable to that in the general population.
- Existing racial/ethnic prevalence differences in certain defects are also observed in DS subpopulations.
Purpose of the Study:
- To review the prevalence and scope of congenital malformations in Down syndrome.
- To investigate the relationship between defect prevalence in DS and the general population.
- To explore the hypothesis that autosomal trisomy amplifies teratogen exposure effects.
Main Methods:
- Literature review of congenital malformations in Down syndrome.
- Comparative analysis of defect incidence between DS and general populations.
- Examination of specific examples like Brushfield spots and anorectal abnormalities.
Main Results:
- Congenital malformations are significantly more common in individuals with Down syndrome.
- The incidence of specific malformations in DS subpopulations is proportionally higher than in the general population.
- Racial/ethnic variations in prevalence exist for certain conditions in both groups.
Conclusions:
- The autosomal trisomic state in Down syndrome appears to amplify the expression of teratogenic exposures.
- This amplification may explain the increased incidence and broad scope of congenital malformations in DS.
- Further research into gene-environment interactions in DS is warranted.