Trisomy 13
Trisomy 13
Definition
Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation.
Also known as Patau syndrome, Patau's syndrome, trisomy 13, Trisomy 13 Syndrome, trisomy type 13 — per MONDO