Concomitant 11p15.4-p15.5 duplication and terminal 22q13.33 deletion in a patient with features of Beckwith-Wiedemann syndrome.

Peterson, Jess F; Bick, David P; Geddes, Gabrielle C; McCarrier, Julie; Grignon, John W; Chirempes, Brett; Broeckel, Ulrich; Abidi, Fatima; Rogers, Richard C; Boccuto, Luigi; DuPont, Barbara; vanTuinen, Peter

Peterson, Jess F; Bick, David P; Geddes, Gabrielle C; McCarrier, Julie; Grignon, John W; Chirempes, Brett; Broeckel, Ulrich; Abidi, Fatima; Rogers, Richard C; Boccuto, Luigi; DuPont, Barbara; vanTuinen, Peter.

Afiliação

Peterson JF; Department of Pathology, Medical College of Wisconsin, Milwaukee.
Bick DP; Wisconsin Diagnostic Laboratories, Milwaukee.
Geddes GC; Department of Pediatrics, Section of Genetics, Medical College of Wisconsin, Milwaukee.
McCarrier J; Advanced Genomics Laboratory, Children's Hospital of Wisconsin, Milwaukee.
Grignon JW; Department of Pediatrics, Section of Genetics, Medical College of Wisconsin, Milwaukee.
Chirempes B; Department of Pediatrics, Section of Genetics, Medical College of Wisconsin, Milwaukee.
Broeckel U; Wisconsin Diagnostic Laboratories, Milwaukee.
Abidi F; Advanced Genomics Laboratory, Children's Hospital of Wisconsin, Milwaukee.
Rogers RC; Department of Pediatrics, Section of Genetics, Medical College of Wisconsin, Milwaukee.
Boccuto L; Department of Pediatrics, Section of Genomic Pediatrics, Medical College of Wisconsin, Milwaukee.
DuPont B; Greenwood Genetic Center, Greenwood.
vanTuinen P; Greenwood Genetic Center, Greenwood.

Am J Med Genet A ; 170(12): 3348-3351, 2016 Dec.

Article em En | MEDLINE | ID: mdl-27549580

Assuntos

Síndrome de Beckwith-Wiedemann/genética; Duplicação Cromossômica; Cromossomos Humanos Par 11; Cromossomos Humanos Par 22; Feminino; Humanos; Masculino

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Síndrome de Beckwith-Wiedemann / Cromossomos Humanos Par 11 / Cromossomos Humanos Par 22 / Duplicação Cromossômica Limite: Female / Humans / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2016 Tipo de documento: Article

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