title: Phenotypic expression in the first case of complete trisomy 12: combination of prenatal ultrasound and necropsic examination.
abstract: The authors report the first case of a complete trisomy 12 detected antenatally at 16 weeks of gestation. The ultrasonographic features (craniofacial abnormalities) correlated well with postmortem findings. The absence of the hypophysis gland, olfactory pathways and both adrenal glands, as well as developmental anomalies of the central nervous system, were additional findings at autopsy. The recognition of complete trisomy 12 phenotype can be helpful in the pre- and postnatal diagnosis of future similar cases and parental counseling.
authors.affiliation: Prenatal Diagnosis Unit, Ultrasound Unit - Obstetrics and Gynecology Service, Genetic Laboratory, Pathology Department, University Hospital of S. João, Faculty of Medicine of Porto, Porto, Portugal. apmachadoobgin@netcabo.pt
authors.forename: Ana Paula
authors.initials: AP
authors.lastname: Machado
authors.forename: Carla
authors.initials: C
authors.lastname: Ramalho
authors.forename: Teresa
authors.initials: T
authors.lastname: Loureiro
authors.forename: Manuela
authors.initials: M
authors.lastname: Cunha
authors.forename: Sofia
authors.initials: S
authors.lastname: Dória
authors.forename: Filipa
authors.initials: F
authors.lastname: Carvalho
authors.forename: João Paulo
authors.initials: JP
authors.lastname: Oliveira
authors.forename: Otília
authors.initials: O
authors.lastname: Brandão
authors.forename: Alexandra
authors.initials: A
authors.lastname: Matias
mesh_terms: D000328:Adult; D000649:Amniocentesis; D002881:Chromosomes, Human, Pair 12; D005260:Female; D006801:Humans; D011247:Pregnancy; D014314:Trisomy / Q000175:diagnosis* / Q000473:pathology; D016216:Ultrasonography, Prenatal