巴陶氏症
Also known as D1 Trisomy, trisomy 13, Patau's syndrome, complete trisomy 13 syndrome, Trisomy type 13
人類染色體三倍體疾病
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 · 中文
巴陶氏症候群（Patau syndrome），又稱13-三體症，染色體三倍體症之一，少見，患者多在出生後一年內死亡。 13-三體症早在1657年便由丹麥醫學家托馬斯·巴托林發現，但其染色體性質是1960年由德裔美國遺傳學家與確認，其名稱即取自巴陶之姓。
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