title: Prenatal diagnosis of 48,XYY, +21 ascertained through ultrasound anomalies.
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.
authors.affiliation: Serviço de Genética Humana da Associação Maternidade de São Paulo,Brazil.
authors.forename: T R
authors.initials: TR
authors.lastname: Gollop
authors.forename: N F
authors.initials: NF
authors.lastname: Naccache
authors.forename: E
authors.initials: E
authors.lastname: Auler-Bittencourt
authors.forename: D
authors.initials: D
authors.lastname: Hauschild
authors.forename: A
authors.initials: A
authors.lastname: Eigier
authors.forename: D K
authors.initials: DK
authors.lastname: Zveibil
mesh_terms: 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