PRENATAL-DIAGNOSIS AND INVESTIGATION OF A FETUS WITH CHONDRODYSPLASIA PUNCTATA, ICHTHYOSIS, AND KALLMANN SYNDROME DUE TO AN XP DELETION

被引：22

作者：

BICK, DP

SCHORDERET, DF

PRICE, PA

CAMPBELL, L

HUFF, RW

SHAPIRO, LJ

MOORE, CM

机构：

[1] UNIV WASHINGTON,DEPT GENET,SEATTLE,WA 98195

[2] UNIV CALIF SAN DIEGO,DEPT BIOL,LA JOLLA,CA 92093

[3] UNIV CALIF LOS ANGELES,HOWARD HUGHES MED INST,DEPT PEDIAT & BIOL CHEM,LOS ANGELES,CA 90024

[4] UNIV TEXAS,HLTH SCI CTR,DEPT PEDIAT,SAN ANTONIO,TX 78284

[5] UNIV TEXAS,HLTH SCI CTR,DEPT OBSTET & GYNECOL,SAN ANTONIO,TX 78284

[6] UNIV TEXAS,HLTH SCI CTR,DEPT CELLULAR & STRUCT BIOL,SAN ANTONIO,TX 78284

来源：

PRENATAL DIAGNOSIS | 1992年 / 12卷 / 01期

关键词：

CHONDRODYSPLASIA PUNCTATA; STEROID SULFATASE DEFICIENCY; KALLMANN SYNDROME; NEURONAL MIGRATION; VITAMIN-K;

D O I：

10.1002/pd.1970120104

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report the prenatal diagnosis of a male fetus with X-linked recessive chondrodysplasia punctata (CDPX), steroid sulphatase (STS) deficiency, X-linked Kallmann syndrome (KAL), and a chromosome deletion at Xp22.31. Biochemical analysis of bone from this case indicates that CDPX is not a defect of vitamin K metabolism. Immunocytochemical study of the brain suggests that KAL is a defect in neuronal migration.

引用

页码：19 / 29

页数：11

共 33 条

[1] CONTIGUOUS GENE SYNDROMES DUE TO DELETIONS IN THE DISTAL SHORT ARM OF THE HUMAN X-CHROMOSOME [J].