Prenatal foetal diagnosis of partial trisomy 3q and monosomy 13p due to a maternal balanced rearrangement

• Type: Article in International Scientific Journal
• Date: 2005

Authors

Pires, A (Author) Other; Ramos, L (Author) Other; Venancio, M (Author) Other; Rei, AI (Author) Other; CASTEDO, S (Author) FMUP; Saraiva, J (Author) Other

Journal

Title: Prenatal Diagnosis

Vol. 25

Pages: 292-295

ISSN: 0197-3851

Publisher: Wiley-Blackwell

Indexing

ISI Web of Knowledge - 9 Citations

Scopus - 9 Citations

Other information

Authenticus ID: P-000-44Z

DOI: 10.1002/pd.1105

Abstract (EN): The authors describe a case of a male foetus whose ultrasound at 20 weeks' gestation revealed cystic hygroma, cleft lip and ventricular septal defect. Amniotic fluid cytogenetics using GTG banding showed a 46,XY,der(13)t(3;13)(q12;p11.1) rearrangement, and fluorescence in situ hybridization (FISH) delineated the relevant breakpoints. Familial studies identified a maternal balanced translocation involving chromosomes 3 and 13. The post-mortem examination confirmed the prenatal ultrasound findings. Copyright © 2005 John Wiley & Sons, Ltd.

Language: English

Type (Professor's evaluation): Scientific

No. of pages: 4