Follow-up of infants with amniotic fluid trisomy 20 mosaicism
β Scribed by Abuelo, Dianne N. ;Barsel-Bowers, Gail ;Zartler, Ann S. ;Opitz, John M. ;Reynolds, James F.
- Publisher
- John Wiley and Sons
- Year
- 1986
- Tongue
- English
- Weight
- 500 KB
- Volume
- 24
- Category
- Article
- ISSN
- 0148-7299
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π SIMILAR VOLUMES
True chromosomal mosaicism of double trisomy (48,XX,+7,+20) was detected in amniotic fluid cell cultures at 16 and 20 weeks of gestation. No aneuploid cells were found in chorionic villus samples (CVS) by semidirect preparation and long-term culture. High-level ultrasound did not indicate any struct
## Abstract We describe the first case of a baby with maternal uniparental disomy of chromosome 2. Growth failure, hypothyroidism, and hyaline membrane disease were present at birth, and the first year of life was complicated by bronchopulmonary dysplasia. At age 14 months, motor and intellectual d
## Abstract ## BACKGROUND RussellβSilver syndrome (RSS) has been associated with maternal uniparental disomy (UPD) for chromosome 7 although the etiology of the syndrome is still unknown. Cases of RSS associated with maternal UPD7 have involved isodisomies, heterodisomies, and mixed isodisomy with