Trisomy 13 Syndrome
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.
Year introduced: 2018(2010)
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Subheadings:
Tree Number(s): C10.597.606.360.835, C14.240.400.970, C14.280.400.970, C16.131.077.919, C16.131.240.400.965, C16.131.260.923, C16.320.180.923
MeSH Unique ID: D000073839
Entry Terms:
- 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