title: Combined Goltz and Aicardi syndromes in a terminal Xp deletion: are they a contiguous gene syndrome?
abstract: We report on 2 girls with a terminal deletion of the short arm of chromosome X. They had microphthalmia, cloudy corneae, mild linear skin lesions, and agenesis of corpus callosum. A comparison of clinical and cytogenetic findings in similar cases suggested that the critical genes for the Goltz and Aicardi syndromes might be contiguous in the region Xp22.31.
authors.affiliation: Department of Pediatrics, University of the Ryukyus School of Medicine, Okinawa, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Naritomi
authors.forename: Y
authors.initials: Y
authors.lastname: Izumikawa
authors.forename: S
authors.initials: S
authors.lastname: Nagataki
authors.forename: Y
authors.initials: Y
authors.lastname: Fukushima
authors.forename: K
authors.initials: K
authors.lastname: Wakui
authors.forename: N
authors.initials: N
authors.lastname: Niikawa
authors.forename: K
authors.initials: K
authors.lastname: Hirayama
mesh_terms: D061085:Agenesis of Corpus Callosum; D002872:Chromosome Deletion; D005260:Female; D005489:Focal Dermal Hypoplasia / Q000235:genetics*; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D007223:Infant; D013577:Syndrome; D014960:X Chromosome