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

被引：21

作者：

BALLABIO, A

ZOLLO, M

CARROZZO, R

CAIULO, A

ZUFFARDI, O

CASCIOLI, CF

VIGGIANO, D

STRISCIUGLIO, P

机构：

[1] NAPLES UNIV,DIPARTMENTO PEDIAT,VIA S PANSINI 5,I-80131 NAPLES,ITALY

[2] UNIV REGGIO CALABRIA,DIPARTIMENTO PEDIAT,REGGIO CALABRIA,ITALY

[3] IST INT GENET & BIOFIS,NAPLES,ITALY

[4] UNIV PAVIA,IST BIOL & GENET MED,I-27100 PAVIA,ITALY

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1991年 / 41卷 / 02期

关键词：

SHORT STATURE; CHONDRODYSPLASIA PUNCTATA; X-LINKED ICHTHYOSIS; STEROID SULFATASE; XP DELETION; CONTIGUOUS GENE SYNDROMES;

D O I：

10.1002/ajmg.1320410210

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：184 / 187

页数：4

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