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.
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页码：1752 / 1755
页数：4
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