✦ LIBER ✦
Prenatal diagnosis of 48,XYY, + 21 ascertained through ultrasound anomalies
✍ Scribed by Gollop, Thomaz Rafael ;Naccache, Nadyr F. ;Auler-Bittencourt, Eloisa ;Hauschild, Decio ;Eigier, Alberto ;Zveibil, Deborah K.
- Publisher
- John Wiley and Sons
- Year
- 1991
- Tongue
- English
- Weight
- 189 KB
- Volume
- 39
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
Abstract
During a routine ultrasound study on a fetus at 21 weeks, nuchal edema was noted. At 21 weeks, repeat ultrasound study at our unit showed scalp and neck edema and a femur length/biparietal diameter ratio below the mean. Transabdominal chorionic villus sampling identified a 48.XYY, + 21 chromosome constitution. The fetus had normal internal/external genitalia and signs of Down syndrome.