We describe the first case of maternal uniparental disomy (UPD) of chromosome 9 in a fetus who was shown to have mosaic trisomy 9 in a chorionic villus sample. Karyotyping and molecular studies following termination of the pregnancy confirmed mosaicism in the placenta and maternal UPD(9) in the feta
A case of maternal uniparental disomy of chromosome 9 diagnosed prenatally and the related problem of residual trisomy
β Scribed by Howard R. Slater; Adrianne Ralph; Art Daniel; Sharron Worthington; Cynthia Roberts
- Publisher
- John Wiley and Sons
- Year
- 2000
- Tongue
- English
- Weight
- 54 KB
- Volume
- 20
- Category
- Article
- ISSN
- 0197-3851
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Chorionic villus sampling (CVS) was performed on a 38-year-old woman at 10 weeks' gestation for advanced maternal age. Two long-term cultures showed true mosaicism of cells with a normal karyotype and cells with trisomy 15. Follow-up amniocentesis showed only cells with a normal karyotype. Methylati
We present a case of maternal uniparental heterodisomy for chromosome 2 (UPD 2) detected after trisomy 2 mosaicism was found on placental biopsy. This case presented prenatally with severe intrauterine growth restriction (IUGR) and oligohydramnios. The diploid newborn had hypospadias and features co
## Abstract Over 30 cases of complete nonβmosaic trisomy 22 have been reported in the literature in the last 20 years [Crowe et al., 1997: Am J Med Genet 71:406β413]. Twentyβtwo infants were liveborn with an average life expectancy of four days. Of these, nine survived beyond the first two weeks of