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Renal and urinary tract abnormalities associated with chromosome aberrations
1Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, Tennessee.
The International Journal of Pediatric Nephrology
|October 1, 1987
Summary
Patients with chromosome aberrations have significantly higher rates of kidney and urinary tract malformations. Early screening for these abnormalities is crucial in affected individuals and fetuses with detected urinary tract issues.
Area of Science:
- Medical Genetics
- Urology
- Developmental Biology
Background:
- Chromosome aberrations are linked to a higher incidence of congenital anomalies.
- Kidney and urinary tract malformations are frequently observed in various genetic syndromes.
Purpose of the Study:
- To highlight the strong association between chromosome aberrations and renal/urinary tract malformations.
- To emphasize the need for targeted screening in specific genetic conditions.
Main Methods:
- Review of existing literature and data on chromosome aberrations and associated malformations.
- Analysis of reported frequencies of renal and urinary tract abnormalities in genetic syndromes.
Main Results:
- High prevalence of renal and urinary tract malformations in "cat-eye" syndrome (60-100%), Turner syndrome (60-80%), trisomy 8 (75%), trisomy 18 (33-70%), trisomy 13 (50-60%), triploidy (>50%), and tetraploidy (>50%).
- Urinary tract abnormalities are significantly more common in individuals with chromosome aberrations compared to the general population.
Conclusions:
- Renal and urinary tract malformations warrant thorough investigation in all patients diagnosed with chromosome aberrations.
- Prenatal diagnosis of urinary tract abnormalities necessitates a chromosome study to rule out underlying genetic causes.