H01790 | |
H番号 | H01790 |
名称 | エマヌエル症候群; 22番過剰派生染色体症候群 |
概要 | Emanuel syndrome (ES) is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic facial dysmorphism, microcephaly, severe mental retardation, developmental delay, renal anomalies, congenital cardiac defects, and genital anomalies in boys. Patients have a supernumerary derivative chromosome caused by a parental balanced translocation between chromosomes 11 and 22. |
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 | In more than 99% of cases, one of the parents of a proband with Emanuel syndrome is a balanced carrier of a t(11;22)(q23;q11.2) and is phenotypically normal. |
リンク | ICD-11: LD41.Q ICD-10: Q92.8 MeSH: C535733 OMIM: 609029 |
文献 | PMID:20301440 著者 Emanuel BS, Zackai EH, Medne L タイトル Emanuel Syndrome 雑誌 GeneReviews (1993) PMID:23691404 著者 Choudhary MG, Babaji P, Sharma N, Dhamankar D, Naregal G, Reddy VS タイトル Derivative 11;22 (emanuel) syndrome: a case report and a review. 雑誌 Case Rep Pediatr 2013:237935 (2013) DOI:10.1155/2013/237935 PMID:19606488 著者 Carter MT, St Pierre SA, Zackai EH, Emanuel BS, Boycott KM タイトル Phenotypic delineation of Emanuel syndrome (supernumerary derivative 22 syndrome): Clinical features of 63 individuals. 雑誌 Am J Med Genet A 149A:1712-21 (2009) DOI:10.1002/ajmg.a.32957 |