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一名身材矮小、点状软骨发育不良且因类固醇硫酸酯酶缺乏导致X连锁鱼鳞病的患者，其X染色体（Xp）远端短臂缺失。

Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency.

作者信息

Ballabio A, Zollo M, Carrozzo R, Caiulo A, Zuffardi O, Cascioli C F, Viggiano D, Strisciuglio P

机构信息

Dipartimento di Pediatria, Università di Reggio Calabria, Napoli, Italy.

出版信息

Am J Med Genet. 1991 Nov 1;41(2):184-7. doi: 10.1002/ajmg.1320410210.

DOI:10.1002/ajmg.1320410210
PMID:1785631
Abstract

We observed a boy with short stature, chondrodysplasia punctata, ichthyosis, and a terminal deletion of Xp. Steroid sulfatase deficiency was demonstrated in the patient's fibroblasts. Molecular analysis showed a deletion of the entire steroid sulfatase gene. This case represents another example of a contiguous gene syndrome in which the co-deletion of adjacent genes on a chromosome is responsible for a complex phenotype.

摘要

我们观察到一名身材矮小、点状软骨发育不良、鱼鳞病且Xp末端缺失的男孩。患者成纤维细胞中证实存在类固醇硫酸酯酶缺乏。分子分析显示整个类固醇硫酸酯酶基因缺失。该病例代表了连续性基因综合征的又一个例子，其中染色体上相邻基因的共同缺失导致了复杂的表型。

相似文献

1
Deletion of the distal short arm of the X chromosome (Xp) in a patient with short stature, chondrodysplasia punctata, and X-linked ichthyosis due to steroid sulfatase deficiency.一名身材矮小、点状软骨发育不良且因类固醇硫酸酯酶缺乏导致X连锁鱼鳞病的患者，其X染色体（Xp）远端短臂缺失。
Am J Med Genet. 1991 Nov 1;41(2):184-7. doi: 10.1002/ajmg.1320410210.
2
Two cases of steroid sulfatase deficiency with complex phenotype due to contiguous gene deletions.两例因相邻基因缺失导致复杂表型的类固醇硫酸酯酶缺乏症病例。
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Chromosomal localisation of a pseudoautosomal growth gene(s).一个拟常染色体生长基因的染色体定位
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Inherited chondrodysplasia punctata due to a deletion of the terminal short arm of an X chromosome.由于X染色体末端短臂缺失导致的遗传性点状软骨发育不良。
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Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion.因Xp缺失导致点状软骨发育不良、鱼鳞病和卡尔曼综合征胎儿的产前诊断与检查
Prenat Diagn. 1992 Jan;12(1):19-29. doi: 10.1002/pd.1970120104.
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Absent chondrodysplasia punctata in a male with an Xp terminal deletion involving the putative region for CDPX1 locus.一名男性患有Xp末端缺失，累及CDPX1基因座的假定区域，未出现点状软骨发育不良。
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[Arylsulfatase C deficiency in leukocytes in patients and carrier of X-chromosome recessive ichthyosis].[X染色体隐性鱼鳞病患者及携带者白细胞中芳基硫酸酯酶C缺乏症]
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[Microsomal sulfatase deficiency in X chromosome-linked ichthyosis].[X染色体连锁鱼鳞病中的微粒体硫酸酯酶缺乏症]
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