| H01792 | |
| H番号 | H01792 |
| 名称 | 1p36 欠失症候群 |
| 概要 | 1p36 deletion syndrome is a recently delineated disorder, considered to be the most common subtelomeric microdeletion syndrome. 1p36 deletion syndrome is characterized by typical craniofacial features consisting of straight eyebrows, deep-set eyes, midface hypoplasia, wide and depressed nasal bridge, long philtrum, and pointed chin. Developmental delay/intellectual disability of variable degree and hypotonia are present in almost all patients. Seizures occur in around half of affected individuals. Other findings include structural brain abnormalities, congenital heart defects, eye/vision problems, hearing loss, skeletal anomalies, abnormalities of the external genitalia, and renal abnormalities. There is significant phenotypic variation among affected individuals. This variation is due, at least in part, to the genetic heterogeneity seen in 1p36 deletions which include terminal and interstitial deletions of varying lengths. |
| 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: LD44.11 ICD-10: Q93.5 MeSH: C535362 OMIM: 607872 |
| 文献 | PMID:26345236 著者 Jordan VK, Zaveri HP, Scott DA タイトル 1p36 deletion syndrome: an update. 雑誌 Appl Clin Genet 8:189-200 (2015) DOI:10.2147/TACG.S65698 PMID:20301370 著者 Battaglia A タイトル 1p36 Deletion Syndrome 雑誌 GeneReviews (1993) PMID:18245432 著者 Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Brailey LL, Zuberi SM, Carey JC タイトル Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation. 雑誌 Pediatrics 121:404-10 (2008) DOI:10.1542/peds.2007-0929 |