Elucidating discrepant results in a prenatal diagnosis of 48,XXY,+18 (Edwards and Klinefelter syndromes).

Peterson, Jess F; Mikulec, Kendra; Grignon, John W; Behmaram, Behnaz; Cruz, Meredith O; van Tuinen, Peter

Peterson, Jess F; Mikulec, Kendra; Grignon, John W; Behmaram, Behnaz; Cruz, Meredith O; van Tuinen, Peter.

Afiliação

Peterson JF; Department of Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin.
Mikulec K; Wisconsin Diagnostic Laboratories, Milwaukee, Wisconsin.
Grignon JW; Department of Obstetrics and Gynecology, Medical College of Wisconsin, Milwaukee, Wisconsin.
Behmaram B; Wisconsin Diagnostic Laboratories, Milwaukee, Wisconsin.
Cruz MO; Department of Pathology, Medical College of Wisconsin, Milwaukee, Wisconsin.
van Tuinen P; Wisconsin Diagnostic Laboratories, Milwaukee, Wisconsin.

Am J Med Genet A ; 167A(11): 2855-7, 2015 Nov.

Article em En | MEDLINE | ID: mdl-26227211

Assuntos

Síndrome de Klinefelter/diagnóstico; Diagnóstico Pré-Natal; Trissomia/diagnóstico; Adulto; Amostra da Vilosidade Coriônica; Cromossomos Humanos Par 18; Feminino; Aconselhamento Genético; Humanos; Hibridização in Situ Fluorescente; Interfase; Gravidez; Síndrome da Trissomía do Cromossomo 18

Palavras-chave

47,XY,+18; 48,XXY,+18; Edwards syndrome; Klinefelter syndrome; chorionic villus sampling (CVS); mosaicism; non-invasive prenatal testing (NIPT)

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Diagnóstico Pré-Natal / Trissomia / Síndrome de Klinefelter Tipo de estudo: Diagnostic_studies Limite: Adult / Female / Humans / Pregnancy Idioma: En Ano de publicação: 2015 Tipo de documento: Article

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