Cytogenetic analysis and detection of KAL-1 gene deletion with fluorescence in situ hybridization (FISH) in patients with Kalmann syndrome
Arq. bras. endocrinol. metab
; 45(6): 552-557, dez. 2001. ilus, tab
Article
in English
| LILACS
| ID: lil-304124
Responsible library:
BR1.2
ABSTRACT
Kallmann syndrome (KS) is a disease clinically characterized by the association of hypogonadotropic hypogonadism and anosmia or hyposmia, for which three modes of transmission have been described X-linked, autosomal recessive and autosomal dominant. The KAL-1 gene, responsible for the X-linked form of the disease, has been isolated and its intron-exon organization determined. In this study, two families with X-linked KS and four sporadic male patients with hypogonadotropic hypogonadism and anosmia were cytogenetically investigated with high-resolution techniques and FISH. Chro-mosomal analysis did not reveal any rearrangements or deletions. Deletion of the KAL-1 gene was detected by FISH in only one sporadic patient with the typical features of KS and a high palate. Among the familial cases renal abnormalities and pes cavus deformity were observed.
Full text:
Available
Collection:
International databases
Database:
LILACS
Main subject:
Kallmann Syndrome
/
In Situ Hybridization, Fluorescence
/
Gene Deletion
/
Cytogenetic Analysis
Type of study:
Diagnostic study
Limits:
Female
/
Humans
/
Male
Language:
English
Journal:
Arq. bras. endocrinol. metab
Journal subject:
Endocrinology
/
Metabolism
Year:
2001
Document type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Universidade de Campinas/BR