A Case of Trisomy D1 — Syndrome of Patau

ABSTRACTA case of D1 trisomy is reported. The patient suffered of multiple congenital anomalies, which formed a characteristic pattern known as the « Patau's syndrome ».Chromosome analysis from blood cultures showed a modal number of 47; the additional chromosome was a 13 (D1).The aneuploidy origin and the probable mechanism, through which the malformations typical of Patau's syndrome might be produced, are discussed