INTRAGENIC DELETION OF THE KALIG-1 GENE IN KALLMANNS SYNDROME

被引：154

作者：

BICK, D

FRANCO, B

SHERINS, RJ

HEYE, B

PIKE, L

CRAWFORD, J

MADDALENA, A

INCERTI, B

PRAGLIOLA, A

MEITINGER, T

BALLABIO, A

机构：

[1] BAYLOR COLL MED,INST MOLEC GENET,1 BAYLOR PL,HOUSTON,TX 77030

[2] GENET & IVF INST,FAIRFAX,VA

[3] VIRGINIA COMMONWEALTH UNIV,MED COLL VIRGINIA,RICHMOND,VA 23298

[4] UNIV MUNICH,KINDER POLIKLIN,PADIATR GENET ABT,W-8000 MUNICH 2,GERMANY

[5] MASSACHUSETTS GEN HOSP,CHILDRENS SERV,BOSTON,MA 02114

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 1992年 / 326卷 / 26期

关键词：

D O I：

10.1056/NEJM199206253262606

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

KALLMANN'S SYNDROME is an inherited disorder characterized by hypogonadism and anosmia.1 The hypogonadism is due to deficiency of gonadotropin-releasing hormone (GnRH),2 and the anosmia is due to hypoplasia or aplasia of the olfactory bulbs and tracts.3 , 4 In addition to hypogonadotropic hypogonadism and anosmia, other abnormalities may be present in patients with Kallmann's syndrome. They include neurologic deficits such as synkinesia,1 , 5 spatial attentional abnormalities,6 spastic paraplegia,7 cerebellar dysfunction, gaze-evoked horizontal nystagmus, pes cavus,5 , 8 mental retardation,9 color-vision disturbance and hearing loss,10 and other somatic defects, such as unilateral renal agenesis,9 horseshoe kidney,11 cryptorchidism,12 and cleft lip and palate.10 Several of these abnormalities… © 1992, Massachusetts Medical Society. All rights reserved.

引用

页码：1752 / 1755

页数：4

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