COMBINED GOLTZ AND AICARDI SYNDROMES IN A TERMINAL XP DELETION - ARE THEY A CONTIGUOUS GENE SYNDROME

被引：65

作者：

NARITOMI, K

IZUMIKAWA, Y

NAGATAKI, S

FUKUSHIMA, Y

WAKUI, K

NIIKAWA, N

HIRAYAMA, K

机构：

[1] UNIV RYUKYUS,SCH MED,DEPT OPHTHALMOL,NISHIHARA,OKINAWA,JAPAN

[2] SAITAMA CHILDRENS MED CTR,DEPT CLIN LAB,DIV MED GENET,WATSUKI,SAITAMA,JAPAN

[3] NAGASAKI UNIV,SCH MED,DEPT HUMAN GENET,NAGASAKI 852,JAPAN

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1992年 / 43卷 / 05期

关键词：

CHROMOSOMAL ABERRATION; XP22.31; CONTIGUOUS-GENE HYPOTHESIS;

D O I：

10.1002/ajmg.1320430517

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

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页码：839 / 843

页数：5

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