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
em En
| LILACS
| ID: lil-304124
Biblioteca responsável:
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
LILACS
Assunto principal:
Síndrome de Kallmann
/
Hibridização in Situ Fluorescente
/
Deleção de Genes
/
Análise Citogenética
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Arq. bras. endocrinol. metab
Assunto da revista:
ENDOCRINOLOGIA
/
METABOLISMO
Ano de publicação:
2001
Tipo de documento:
Article
País de afiliação:
Brasil
País de publicação:
Brasil