Prenatal diagnosis of 48,XYY, +21 ascertained through ultrasound anomalies.
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.
Gollop
T R
TR
Serviço de Genética Humana da Associação Maternidade de São Paulo,Brazil.
Naccache
N F
NF
Auler-Bittencourt
E
E
Hauschild
D
D
Eigier
A
A
Zveibil
D K
DK
D004314:Down Syndrome / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009333:Neck / Q000002:abnormalities / Q000000981:diagnostic imaging; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D012535:Scalp / Q000002:abnormalities / Q000000981:diagnostic imaging; D016216:Ultrasonography, Prenatal; D014997:XYY Karyotype