Aicardi syndrome: early neuroradiological manifestations and results of DNA studies in one patient.
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.
Nielsen
K B
KB
Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.
Anvret
M
M
Flodmark
O
O
Furuskog
P
P
Bohman-Valis
K
K
D061085:Agenesis of Corpus Callosum; D001921:Brain / Q000002:abnormalities / Q000000981:diagnostic imaging; D002874:Chromosome Mapping; D002891:Chromosomes, Human, Pair 21 / Q000648:ultrastructure*; D002892:Chromosomes, Human, Pair 22 / Q000648:ultrastructure*; D003337:Corpus Callosum / Q000000981:diagnostic imaging; D004247:DNA / Q000032:analysis*; D005124:Eye Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics*; D005260:Female; D005819:Genetic Markers; D006801:Humans; D007231:Infant, Newborn; D011877:Radionuclide Imaging; D013036:Spasms, Infantile / Q000000981:diagnostic imaging / Q000235:genetics*; D013577:Syndrome; D014057:Tomography, X-Ray Computed; D014463:Ultrasonography
D005819:Genetic Markers; D004247:DNA