パトウ症候群
Also known as D1 Trisomy, trisomy 13, Patau's syndrome, complete trisomy 13 syndrome, Trisomy type 13
前脳・中顔面・眼の発育・心臓の異常、重度の知的障害、出生時低身長などを特徴とする、13番染色体の全部または一部分が3本ある染色体異常症
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 · 日本語
パトウ症候群(Patau syndrome)は、常染色体の13番目が3本ある（トリソミー）ことで起因する遺伝子疾患。13トリソミーまたはDトリソミーとも呼ばれる。
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