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Am J Med Genet. 1992 Jul 15;43(5):839-43.

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

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1
Department of Pediatrics, University of the Ryukyus School of Medicine, Okinawa, Japan.

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.

PMID:
1642272
DOI:
10.1002/ajmg.1320430517
[Indexed for MEDLINE]
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