Translocation 10;18 in a patient with juvenile neuronal ceroid-lipofuscinosis (Batten disease).

Tuck-Muller, C M; Dyken, P R; Li, S; Chen, H; Labbé, E; Wertelecki, W

Tuck-Muller, C M; Dyken, P R; Li, S; Chen, H; Labbé, E; Wertelecki, W.

Afiliação

Tuck-Muller CM; Department of Medical Genetics, College of Medicine, University of South Alabama, Mobile 36688-0002, USA.

Am J Med Genet ; 57(2): 168-71, 1995 Jun 05.

Article em En | MEDLINE | ID: mdl-7668324

ABSTRACT

ABSTRACT

We report the first observation of a chromosome abnormality in a patient with typical juvenile ceroid-lipofuscinosis (NCL), who was found to have an apparently balanced translocation between chromosomes 10 and 18 [t(10;18)(q22.1;q21.1)]. Since juvenile NCL was previously mapped to 16p12, this report raises the possibility of heterogeneity in this form of NCL.

Assuntos

Cromossomos Humanos Par 10; Cromossomos Humanos Par 18; Lipofuscinoses Ceroides Neuronais/genética; Lipofuscinoses Ceroides Neuronais/patologia; Translocação Genética; Criança; Bandeamento Cromossômico; Mapeamento Cromossômico; Feminino; Humanos; Cariotipagem; Linfócitos/patologia; Linfócitos/ultraestrutura; Masculino; Microscopia Eletrônica; Lipofuscinoses Ceroides Neuronais/classificação; Vacúolos/patologia; Vacúolos/ultraestrutura

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Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Translocação Genética / Cromossomos Humanos Par 10 / Cromossomos Humanos Par 18 / Lipofuscinoses Ceroides Neuronais Limite: Child / Female / Humans / Male Idioma: En Ano de publicação: 1995 Tipo de documento: Article

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