Trisomy 16 mosaicism was found in amniotic fluid cells in a patient undergoing amniocentesis because of elevated second-trimester maternal serum alpha-fetoprotein (MSAFP) (2.80 MOM), a markedly elevated human chorionic gonadotropin level (hCG) (12.02 MOM), and a Down syndrome risk of 1:55. Ultrasoun
Trisomy 20 mosaicism in amniotic fluid culture
โ Scribed by Donnenfeld, Alan E. ;Mennuti, Michael T. ;Long, Wenda S. ;Bartolo, Rebecca G. ;Opitz, John M.
- Publisher
- John Wiley and Sons
- Year
- 1987
- Tongue
- English
- Weight
- 99 KB
- Volume
- 27
- Category
- Article
- ISSN
- 0148-7299
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๐ SIMILAR VOLUMES
Three new cases of true mosaic trisomy 17 (MT17) were diagnosed in amniotic fluid cells. Postnatal chromosome analysis from lymphocytes did not confirm the trisomic cell line, and follow-up studies showed normal psycho-motor development of the children, in one case up to the age of 4ยฝ years. We sugg
## 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