Risk for trisomy 21 in offspring of individuals who have relatives with trisomy 21
โ Scribed by Abuelo, Dianne ;Barsel-Bowers, Gail ;Busch, Wendy ;Pueschel, Siegfried ;Pezzullo, John ;Reynolds, James F.
- Publisher
- John Wiley and Sons
- Year
- 1986
- Tongue
- English
- Weight
- 169 KB
- Volume
- 25
- Category
- Article
- ISSN
- 0148-7299
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We report the first case of mosaic trisomy 21 with non-immune hydrops fetalis and bilateral chylothoraces. Prenatal fetal blood karyotype analysis of 15 fetal cells revealed a 46,XX karyotype. Aggressive prenatal management, including fetal thoracocentesis and pleuro-amniotic shunt, was performed. A
## Abstract Little is known about the pathogenesis of the phenotype in individuals with trisomy 21 mosaicism and Down syndrome. The primary goal of this study was to identify factors contributing to the observed phenotypic variation by evaluating 107 individuals having trisomy 21 mosaicism. To inve