Partial tetrasomy 18 mosaicism: Pre and postnatal diagnosis of a unique pattern

• Main Authors: Telma Luís (Author), Cristina Candeias (Author), Sara Domingues (Author), Natália Oliva-Teles (Author), Céu Mota (Author), Cláudia Falcão Reis (Author)
• Format: Book
• Published: Elsevier, 2022-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: To present prenatal diagnosis and cytogenetic characterization of a unique pattern of partial tetrasomy 18 mosaicism. Case report: A 34-year-old woman underwent amniocentesis at 25 weeks of gestation due to anomalies detected in obstetric ultrasound. It revealed a de novo supernumerary pa...