| H01564 | |
| H番号 | H01564 |
| 名称 | エドワ−ズ症候群; 18 トリソミー |
| 概要 | Edwards syndrome, also known as trisomy 18, is a chromosomal disorder due to the presence of an extra chromosome 18, either full, mosaic trisomy, or partial trisomy 18q. This disease is the second-most common autosomal trisomy, after Down syndrome. The live born prevalence is estimated as 1/6,000-1/8,000, but the overall prevalence is higher (1/2500-1/2600) due to the high frequency of fetal loss and pregnancy termination after prenatal diagnosis. The main clinical features include prenatal growth deficiency, characteristic craniofacial features, distinctive hand posture, nail hypoplasia, short hallux, short sternum, and major malformations (particularly involving the heart). Approximately 50% of newborns survive beyond 1 week while more than 90% do not survive beyond 1 years of age. |
| カテゴリ | 染色体異常 |
| ネットワーク | - |
| 病因遺伝子 | - |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD40.2 ICD-10: Q91 MeSH: C580500 |
| 文献 | PMID:26820816 著者 Imataka G, Suzumura H, Arisaka O タイトル Clinical features and survival in individuals with trisomy 18: A retrospective one-center study of 44 patients who received intensive care treatments. 雑誌 Mol Med Rep 13:2457-66 (2016) DOI:10.3892/mmr.2016.4806 PMID:23088440 著者 Cereda A, Carey JC タイトル The trisomy 18 syndrome. 雑誌 Orphanet J Rare Dis 7:81 (2012) DOI:10.1186/1750-1172-7-81 PMID:25598039 著者 Zhang H, Gao Y, Jiang F, Fu M, Yuan Y, Guo Y, Zhu Z, Lin M, Liu Q, Tian Z, Zhang H, Chen F, Lau TK, Zhao L, Yi X, Yin Y, Wang W タイトル Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146,958 pregnancies. 雑誌 Ultrasound Obstet Gynecol 45:530-8 (2015) DOI:10.1002/uog.14792 |