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Combined Goltz and Aicardi syndromes in a terminal Xp deletion: are they a contiguous gene syndrome?

作者信息

Naritomi K, Izumikawa Y, Nagataki S, Fukushima Y, Wakui K, Niikawa N, Hirayama K

机构信息

Department of Pediatrics, University of the Ryukyus School of Medicine, Okinawa, Japan.

出版信息

Am J Med Genet. 1992 Jul 15;43(5):839-43. doi: 10.1002/ajmg.1320430517.

DOI:10.1002/ajmg.1320430517
PMID:1642272
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.

摘要

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