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

• Egile Nagusiak: Maria Papamichail (Egilea), Anna Eleftheriades (Egilea), Emmanouil Manolakos (Egilea), Adamantia Papamichail (Egilea), Panagiotis Christopoulos (Egilea), Gwendolin Manegold-Brauer (Egilea), Makarios Eleftheriades (Egilea)
• Formatua: Liburua
• Argitaratua: BMC, 2024-04-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: 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...