一名患有47,XYY性染色体非整倍体的患者出现白内障。
Cataract in a patient with 47,XYY sex chromosome aneuploidy.
作者信息
Medina-Andrade A, Villanueva-Mendoza C, Arenas S, Cortés-González V
机构信息
Asociación para Evitar la Ceguera en México, Institución de Asistencia Privada, Hospital Dr. Luis Sánchez Bulnes, Ciudad de México, México.
Laboratorio de Medicina Genómica, Instituto Nacional de Rehabilitación, Ciudad de México, México.
出版信息
Arch Soc Esp Oftalmol (Engl Ed). 2018 Jun;93(6):303-306. doi: 10.1016/j.oftal.2017.11.007. Epub 2018 Feb 1.
CASE REPORT
The case concerns a 16 year-old boy with a history of high myopia and unilateral congenital cataract, tall stature for age, facial dysmorphism, hypermobile metacarpal-phalangeal joints, as well as behavioural problems. The mother had a history of recurrent pregnancy loss. Chromosomal analysis of the peripheral blood lymphocytes reported 47,XYY.
DISCUSSION
Patients with sex chromosome aneuploidy 47,XYY have higher risk of congenital malformations, although ophthalmological anomalies are unusual. Evaluation of patients with tall stature and behavioural problems should include a chromosomal analysis in order to determine the aetiology.
病例报告
该病例为一名16岁男孩，有高度近视和单侧先天性白内障病史，身材高于同龄人，面部畸形，掌指关节活动过度，并有行为问题。其母亲有反复流产史。外周血淋巴细胞染色体分析报告显示为47,XYY。
讨论
性染色体非整倍体47,XYY患者患先天性畸形的风险较高，尽管眼科异常并不常见。对身材高大和有行为问题的患者进行评估时应包括染色体分析，以确定病因。
Zotero 插件