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

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.

• Authors: K B Nielsen, M Anvret, O Flodmark, P Furuskog, K Bohman-Valis
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 38 Issue 1 Pg. 65-8 (Jan 1991) ISSN: 0148-7299 [Print] United States
• PMID: 2012135 (Publication Type: Case Reports, Journal Article)

Chemical References

• Genetic Markers
• DNA

Topics

• Agenesis of Corpus Callosum
• Brain (abnormalities, diagnostic imaging)
• Chromosome Mapping
• Chromosomes, Human, Pair 21 (ultrastructure)
• Chromosomes, Human, Pair 22 (ultrastructure)
• Corpus Callosum (diagnostic imaging)
• DNA (analysis)
• Eye Abnormalities (diagnostic imaging, genetics)
• Female
• Genetic Markers
• Humans
• Infant, Newborn
• Radionuclide Imaging
• Spasms, Infantile (diagnostic imaging, genetics)
• Syndrome
• Tomography, X-Ray Computed
• Ultrasonography