A balanced paternal interchromosomal reciprocal insertion between 5q12.1q13.2 and 20p12.3p12.1 resulting in separate genetic conditions in two siblings.

Wallis, Mathew J; Kelly, Amanda L; Peters, Gregory B; St Heaps, Luke; Nandini, Adayapalam; McGaughran, Julie M

Wallis, Mathew J; Kelly, Amanda L; Peters, Gregory B; St Heaps, Luke; Nandini, Adayapalam; McGaughran, Julie M.

Afiliación

Wallis MJ; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland.
Kelly AL; School of Medicine, The University of Queensland, Brisbane, Queensland.
Peters GB; Genetic Health Queensland, Royal Brisbane and Women's Hospital, Brisbane, Queensland.
St Heaps L; Department of Cytogenetics, The Children's Hospital at Westmead, Sydney, New South Wales.
Nandini A; Department of Cytogenetics, The Children's Hospital at Westmead, Sydney, New South Wales.
McGaughran JM; Department of Cytogenetics, Royal Brisbane and Women's Hospital, Brisbane, Queensland.

Am J Med Genet A ; 170(7): 1930-3, 2016 Jul.

Article en En | MEDLINE | ID: mdl-27159256

Asunto(s)

Anomalías Múltiples/genética; Síndrome de Alagille/genética; Cromosomas Humanos Par 20; Cromosomas Humanos Par 5; Padre; Impresión Genómica; Mutagénesis Insercional; Hermanos; Preescolar; Femenino; Humanos; Hibridación Fluorescente in Situ; Recién Nacido; Cariotipificación; Masculino

Palabras clave

Alagille syndrome; complex cytogenic rearrangement; interchromosomal reciprocal insertion

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Anomalías Múltiples / Cromosomas Humanos Par 5 / Cromosomas Humanos Par 20 / Mutagénesis Insercional / Síndrome de Alagille / Impresión Genómica / Hermanos / Padre Límite: Child, preschool / Female / Humans / Male / Newborn Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2016 Tipo del documento: Article

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