Trisomy 13 Syndrome

Trisomi 13 syndrom

Engelsk definition

A chromosome disorder associated with TRISOMY of all or part of CHROMOSOME 13. Clinical manifestations include CONGENITAL HEART DEFECTS (e.g., PATENT DUCTUS ARTERIOSUS), facial malformations (e.g., CLEFT LIP; CLEFT PALATE; COLOBOMA; MICROPHTHALMIA); HYPOTONIA, digit malformations (e.g., POLYDACTYLY or SYNDACTYLY), and SEIZURES and severe INTELLECTUAL DISABILITY associated with NERVOUS SYSTEM MALFORMATIONS.

Svenska synonymer

Pataus syndrom

Engelska synonymer

Bartholin-Patau Syndrome — Bartholin Patau Syndrome — Chromosome 13 Trisomy Syndrome — Patau's Syndrome — Pataus Syndrome — Trisomy 13 Syndromes — Patau Syndrome — Chromosome 13 Duplication — Chromosome 13 Duplications — Duplication, Chromosome 13 — Trisomy 13 — Complete Trisomy 13 Syndrome — Mosaic Trisomy 13 Syndrome