CHROMOSOME ABNORMALITY IN KALLMANN SYNDROME

被引：25

作者：

BEST, LG

WASDAHL, WA

LARSON, LM

STURLAUGSON, J

机构：

[1] UNIV N DAKOTA,SCH MED,BELCOURT,ND

[2] UNIV N DAKOTA,SCH MED,DEPT PATHOL,GRAND FORKS,ND 58202

[3] INDIAN HLTH SERV HOSP,BELCOURT,ND

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS | 1990年 / 35卷 / 03期

关键词：

Chromosome translocation (7q; 12q); Hypogonadotropic hypogonadism; Hyposmia/anosmia; Steroid sulphatase gene;

D O I：

10.1002/ajmg.1320350303

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on an individual with Kallman syndrome (KS) and a balanced de novo translocation (7;12)(q22,q24). None of 6 full sibs, 3 half-sibs, or parents have KS or this chromosome translocation. This is the only known report of KS with a chromosome abnormality. This may represent a spurious association or genetic heterogeneity vis-a-vis the reported linkage of KS to the steroid sulphatase gene on the X chromosome. The pathophysiology and genetics of KS are discussed.

引用

页码：306 / 309

页数：4

共 33 条

[1] DELETIONS OF THE STEROID SULFATASE GENE IN CLASSICAL X-LINKED ICHTHYOSIS AND IN X-LINKED ICHTHYOSIS ASSOCIATED WITH KALLMANN SYNDROME [J].