Aicardi syndrome: Early neuroradiological manifestations and results of DNA studies in one patient
- 1 January 1991
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 38 (1) , 65-68
- https://doi.org/10.1002/ajmg.1320380115
Abstract
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.Keywords
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