Синдром Патау
Also known as D1 Trisomy, trisomy 13, Patau's syndrome, complete trisomy 13 syndrome, Trisomy type 13
заболевание, выраженное множественными пороками развития и трисомией 13 хромосомы
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 · Русский
Синдром Пата́у (трисомия 13) — генетическое заболевание человека, которое характеризуется возникновением геномной мутации, а именно трисомией по 13-й хромосоме.
Abstract from DBpedia / Wikipedia · CC BY-SA
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Categories
Autosomal trisomiesChromosomal abnormalitiesDiseases named after discoverersGenetic diseases and disordersRare genetic syndromesSource attributionSyndromes affecting the heartSyndromes affecting the nervous systemSyndromes with cleft lip and/or palateSyndromes with dysmeliaSyndromes with microcephaly