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
Artigo
em Inglês
| LILACS
| ID: lil-304124
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:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Síndrome de Kallmann
/
Hibridização in Situ Fluorescente
/
Deleção de Genes
/
Análise Citogenética
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Arq. bras. endocrinol. metab
Assunto da revista:
Endocrinologia
/
Metabolismo
Ano de publicação:
2001
Tipo de documento:
Artigo
País de afiliação:
Brasil
Instituição/País de afiliação:
Universidade de Campinas/BR
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