Patau syndrome

Also known as D1 Trisomy, trisomy 13, Patau's syndrome, complete trisomy 13 syndrome, Trisomy type 13

human disease

Key facts

Other names: Trisomy 13, trisomy D, T13
Pronunciation: / ˈ p æ t aʊ /
Specialty: Medical genetics
Symptoms: Intellectual disability , motor disorder, microcephaly , polydactyly , heart defects , deformed feet
Usual onset: Present at birth
Duration: Lifelong
Types: Full, mosaic
Causes: Third copy of chromosome 13
Risk factors: Higher maternal age
Diagnostic method: Karyotype
Treatment: Supportive care
Prognosis: 90% of babies born alive die within their first year of life

Article

Patau syndrome, also called trisomy 13, is a syndrome caused by a chromosomal abnormality, in which some or all of the cells of the body contain extra genetic material from chromosome 13. The extra genetic material disrupts normal development, causing multiple and complex organ defects.

This can occur either because each cell contains a full extra copy of chromosome 13 (a disorder known as trisomy 13 or trisomy D or T13), or because each cell contains an extra partial copy of the chromosome, or because there are two different lines of cells—one healthy with the correct number of chromosomes 13 and one that contains an extra copy of the chromosome—mosaic Patau syndrome. Full trisomy 13 is caused by nondisjunction of chromosomes during meiosis; the mosaic form is caused by nondisjunction during mitosis.