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    Am J Med Genet. 1991 Jan;38(1):65-8.

    Aicardi syndrome: early neuroradiological manifestations and results of DNA studies in one patient.

    Nielsen KB, Anvret M, Flodmark O, Furuskog P, Bohman-Valis K.

    Source

    Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.

    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.

    PMID:
    2012135
    [PubMed - indexed for MEDLINE]

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