1.
Am J Med Genet
; 38(1): 65-8, 1991 Jan.
Article
in English
| MEDLINE
| ID: mdl-2012135
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.