Phenotypic expression in the first case of complete trisomy 12: combination of prenatal ultrasound and necropsic examination.
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.
Machado
Ana Paula
AP
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
Ramalho
Carla
C
Loureiro
Teresa
T
Cunha
Manuela
M
Dória
Sofia
S
Carvalho
Filipa
F
Oliveira
João Paulo
JP
Brandão
Otília
O
Matias
Alexandra
A
D000328:Adult; D000649:Amniocentesis; D002881:Chromosomes, Human, Pair 12; D005260:Female; D006801:Humans; D011247:Pregnancy; D014314:Trisomy / Q000175:diagnosis* / Q000473:pathology; D016216:Ultrasonography, Prenatal