Phenotypic Expression in the First Case of Complete Trisomy 12: Combination of Prenatal Ultrasound and Necropsic Examination

• Type: Article in International Scientific Journal
• Date: 2009

Authors

machado, ap (Author) Other; ramalho, c (Author) Other; loureiro, t (Author) FMUP; cunha, m (Author) Other; doria, s (Author) FMUP; carvalho, f (Author) FMUP; oliveira, jp (Author) FMUP; brandao, o (Author) Other; matias, a (Author) FMUP

Journal

Title: Fetal Diagnosis and Therapy

Vol. 25

Pages: 234-238

ISSN: 1015-3837

Publisher: Karger

Indexing

ISI Web of Knowledge - 3 Citations

Scopus - 3 Citations

Scientific classification

FOS: Medical and Health sciences > Clinical medicine

Other information

Authenticus ID: P-003-Q3H

DOI: 10.1159/000222666

Abstract (EN): 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. Copyright (C) 2009 S. Karger AG, Basel

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 5