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Trisomy 21 mosaicism in gonads with unexpectedly high recurrence risks
E S Sachs1, M G Jahoda, F J Los
1Department of Clinical Genetics, University Hospital Dijkzigt, Erasmus University, Rotterdam, The Netherlands.
American Journal of Medical Genetics. Supplement
|January 1, 1990
Summary
Recurrence risk for Down syndrome (DS) can be higher than expected due to parental mosaicism. Thorough genetic testing of parents is recommended after multiple DS-affected pregnancies.
Area of Science:
- Genetics
- Reproductive Biology
- Prenatal Diagnosis
Background:
- Down syndrome (trisomy 21) recurrence risk is typically low.
- Parental mosaicism for chromosome 21 is a potential, though rare, cause of recurrence.
- Previous studies have not fully elucidated the role of parental mosaicism in recurrent trisomy 21.