Clinical and molecular findings in a patient with 46,XX/47,XX,+14 mosaicism caused by postzygotic duplication of a paternally derived chromosome 14.

Suzumori, Nobuhiro; Kagami, Masayo; Kumagai, Kyoko; Goto, Shinobu; Matsubara, Keiko; Sano, Shinichiro; Sugiura-Ogasawara, Mayumi

Suzumori, Nobuhiro; Kagami, Masayo; Kumagai, Kyoko; Goto, Shinobu; Matsubara, Keiko; Sano, Shinichiro; Sugiura-Ogasawara, Mayumi.

Afiliação

Suzumori N; Department of Obstetrics and Gynecology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
Kagami M; Division of Clinical and Molecular Genetics, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
Kumagai K; Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
Goto S; Department of Obstetrics and Gynecology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
Matsubara K; Division of Clinical and Molecular Genetics, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
Sano S; Department of Obstetrics and Gynecology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.
Sugiura-Ogasawara M; Division of Clinical and Molecular Genetics, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.

Am J Med Genet A ; 167A(10): 2474-7, 2015 Oct.

Article em En | MEDLINE | ID: mdl-26183675

Assuntos

Duplicação Cromossômica; Impressão Genômica; Trissomia/diagnóstico; Trissomia/genética; Adulto; Cromossomos Humanos Par 14/genética; Feminino; Humanos; Recém-Nascido; Cariotipagem; Masculino; Mosaicismo; Trissomia/patologia

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Trissomia / Impressão Genômica / Duplicação Cromossômica Idioma: En Ano de publicação: 2015 Tipo de documento: Article

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