Nielsen K B, Anvret M, Flodmark O, Furuskog P, Bohman-Valis K
Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.
Am J Med Genet. 1991 Jan;38(1):65-8. doi: 10.1002/ajmg.1320380115.
A patient with Aicardi syndrome is presented. We report results of DNA analysis from the patient and her parents with probes mapped to Xp21.3-22.3 in an attempt to localize a deletion in this region. No signs of a microdeletion could be detected, using 5 different DNA markers. Further, it is suggested that a specific combination of cerebral abnormalities may be characteristic of the syndrome and that antenatal ultrasonographic diagnosis may be feasible.
本文报告了一例患有艾卡迪综合征的患者。我们报告了对该患者及其父母进行DNA分析的结果，使用定位到Xp21.3 - 22.3区域的探针，试图定位该区域的缺失。使用5种不同的DNA标记未检测到微缺失的迹象。此外，研究表明特定的脑异常组合可能是该综合征的特征，并且产前超声诊断可能是可行的。
