Lote Hazel, Fuller Geraint N, Bain Peter G
Department of Neurosciences, Imperial College London, Charing Cross Hospital Campus, London, UK.
Pract Neurol. 2013 Aug;13(4):249-53. doi: 10.1136/practneurol-2012-000438. Epub 2013 Mar 13.
48, XXYY syndrome is a form of sex chromosome aneuploidy that affects between 1 in 18 000 to 1 in 40 000 males. It is not inherited and is diagnosed by karyotyping. It has similarities to 47, XXY Klinefelter's syndrome, with tall stature, micro-orchidism, hypergonadotropic hypogonadism and infertility in males. However, patients with 48, XXYY syndrome also commonly have dental problems, tremor, attention deficit disorder, learning difficulties, allergies and asthma. The tremor is typically reported as an intention tremor (in 71% of patients XXYY aged >20 years with 48), which becomes more common with age and worsens over time.
48,XXYY综合征是一种性染色体非整倍体疾病,在18000至40000名男性中约有1人受其影响。它不是遗传性疾病,通过核型分析进行诊断。它与47,XXY克氏综合征有相似之处,男性患者身材高大、小睾丸、高促性腺激素性性腺功能减退和不育。然而,48,XXYY综合征患者通常也有牙齿问题、震颤、注意力缺陷障碍、学习困难、过敏和哮喘。震颤通常被报告为意向性震颤(在年龄大于20岁的48,XXYY患者中占71%),随着年龄增长变得更常见且会逐渐加重。