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Wide clinical variability in cat eye syndrome patients: four non-related patients and three patients from the same family.
Belangero, S I; Pacanaro, A N X; Bellucco, F T; Christofolini, D M; Kulikowski, L D; Guilherme, R S; Bortolai, A; Dutra, A R N; Piazzon, F B; Cernach, M C; Melaragno, M I.
Afiliação
  • Belangero SI; Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.
Cytogenet Genome Res ; 138(1): 5-10, 2012.
Article em En | MEDLINE | ID: mdl-22890013
A small supernumerary marker chromosome (sSMC) derived from chromosome 22 is a relatively common cytogenetic finding. This sSMC typically results in tetrasomy for a chromosomal region that spans the chromosome 22p arm and the proximal 2 Mb of 22q11.21. Using classical cytogenetics, fluorescence in situ hybridization, multiplex ligation-dependent probe amplification, and array techniques, 7 patients with sSMCs derived from chromosome 22 were studied: 4 non-related and 3 from the same family (mother, daughter, and son). The sSMCs in all patients were dicentric and bisatellited chromosomes with breakpoints in the chromosome 22 low-copy repeat A region, resulting in cat eye syndrome (CES) due to chromosome 22 partial tetrasomy 22pter→q11.2 including the cat eye chromosome region. Although all subjects presented the same chromosomal abnormality, they showed a wide range of phenotypic differences, even in the 3 patients from the same family. There are no previous reports of CES occurring within 3 patients in the same family. Thus, the clinical and follow-up data presented here contribute to a better delineation of the phenotypes and outcomes of CES patients and will be useful for genetic counseling.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos Cromossômicos Tipo de estudo: Observational_studies / Prognostic_studies Limite: Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Cytogenet Genome Res Assunto da revista: GENETICA Ano de publicação: 2012 Tipo de documento: Article País de afiliação: Brasil País de publicação: Suíça

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos Cromossômicos Tipo de estudo: Observational_studies / Prognostic_studies Limite: Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Cytogenet Genome Res Assunto da revista: GENETICA Ano de publicação: 2012 Tipo de documento: Article País de afiliação: Brasil País de publicação: Suíça