Demonstration of a novel Xp22.2 microdeletion as the cause of familial extreme skewing of X-inactivation utilizing case-parent trio SNP microarray analysis.

Mason, Jane A; Aung, Hnin T; Nandini, Adayapalam; Woods, Rickie G; Fairbairn, David J; Rowell, John A; Young, David; Susman, Rachel D; Brown, Simon A; Hyland, Valentine J; Robertson, Jeremy D

Mason, Jane A; Aung, Hnin T; Nandini, Adayapalam; Woods, Rickie G; Fairbairn, David J; Rowell, John A; Young, David; Susman, Rachel D; Brown, Simon A; Hyland, Valentine J; Robertson, Jeremy D.

Afiliación

Mason JA; Queensland Haemophilia Centre, Department of Haematology and Cancer Care, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia.
Aung HT; Department of Cytogenetics, Pathology Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia.
Nandini A; Department of Cytogenetics, Pathology Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia.
Woods RG; Department of Molecular Genetics, Pathology Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia.
Fairbairn DJ; Department of Molecular Genetics, Pathology Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia.
Rowell JA; Queensland Haemophilia Centre, Department of Haematology and Cancer Care, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia.
Young D; Department of Cytogenetics, Pathology Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia.
Susman RD; Department of Molecular Genetics, Pathology Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia.
Brown SA; Department of Molecular Genetics, Pathology Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia.
Hyland VJ; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, QLD, Australia.
Robertson JD; Department of Haemophilia and Haematology, Lady Cilento Children's Hospital, Brisbane, QLD, Australia.

Mol Genet Genomic Med ; 6(3): 357-369, 2018 05.

Article en En | MEDLINE | ID: mdl-29490426

Asunto(s)

Inactivación del Cromosoma X/genética; Adulto; Deleción Cromosómica; Cromosomas Humanos X/genética; Cromosomas Humanos X/fisiología; Factor VIII/genética; Familia; Femenino; Estudios de Asociación Genética/métodos; Hemofilia A/genética; Humanos; Masculino; Análisis por Micromatrices; Persona de Mediana Edad; Mutación; Padres; Linaje; Polimorfismo de Nucleótido Simple/genética; ARN Largo no Codificante/genética; Receptores Androgénicos/genética; Eliminación de Secuencia; Aberraciones Cromosómicas Sexuales

Palabras clave

X inactivation; female; genetics; hemophilia; pediatric

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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Inactivación del Cromosoma X Tipo de estudio: Prognostic_studies Límite: Adult / Female / Humans / Male / Middle aged Idioma: En Revista: Mol Genet Genomic Med Año: 2018 Tipo del documento: Article País de afiliación: Australia

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