Kobrynski L, Chitayat D, Zahed L, McGregor D, Rochon L, Brownstein S, Vekemans M, Albert D L
Department of Pediatrics, Montreal Children's Hospital, Quebec, Canada.
Am J Med Genet. 1993 Apr 1;46(1):68-71. doi: 10.1002/ajmg.1320460111.
We report on an infant girl born with complete trisomy 22 and left hemifacial microsomia, ear anomaly, and limbal and epibulbar complex choristoma. Trisomy 22 was confirmed by prometaphase chromosome analysis and in situ hybridization. This patient extends the list of chromosome abnormalities associated with apparent Golenhar sequence and emphasizes the importance of chromosome analysis in the investigation of patients with this condition. A detailed ophthalmopathological investigation is reported.
我们报告了一名患有22号染色体完全三体综合征的女婴，同时伴有左侧半侧颜面短小、耳部异常以及角膜缘和球结膜复合性迷芽瘤。通过前中期染色体分析和原位杂交确诊了22号染色体三体。该患者扩展了与明显的戈伦哈尔序列相关的染色体异常列表，并强调了染色体分析在患有这种疾病患者调查中的重要性。本文报告了一项详细的眼科病理研究。
