Prenatal diagnosis of 18p deletion and 8p trisomy syndrome: literature review and report of a novel case

• Main Authors: Maria Papamichail (Author), Anna Eleftheriades (Author), Emmanouil Manolakos (Author), Adamantia Papamichail (Author), Panagiotis Christopoulos (Author), Gwendolin Manegold-Brauer (Author), Makarios Eleftheriades (Author)
• Format: Knjiga
• Izdano: BMC, 2024-04-01T00:00:00Z.
• Teme: article
• Online dostop: Connect to this object online.

Abstract 18p deletion syndrome constitutes one of the most frequent autosomal terminal deletion syndromes, affecting one in 50,000 live births. The syndrome has un-specific clinical features which vary significantly between patients and may overlap with other genetic conditions. Its prenatal descrip...