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Arquivos Brasileiros de Endocrinologia & Metabologia

versão On-line ISSN 1677-9487

Resumo

TRARBACH, Ericka B.; BAPTISTA, Maria T.M.; MACIEL-GUERRA, Andréa T.  e  HACKEL, Christine. Cytogenetic analysis and detection of KAL-1 gene deletion with fluorescence in situ hybridization (FISH) in patients with Kallmann syndrome. Arq Bras Endocrinol Metab [online]. 2001, vol.45, n.6, pp.552-557. ISSN 1677-9487.  http://dx.doi.org/10.1590/S0004-27302001000600008.

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. Chromosomal 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.

Palavras-chave : Kallmann syndrome; Deletion KAL-1; FISH; Renal abnormalities.

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