Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation.

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第一作者： Rita,Genesio

第一单位： Department of Molecular Medicine and Medical Biotechnology, University of Naples "Federico II", Naples, Italy.

作者： Rita,Genesio ^[1] ; Angela,Mormile ^[1] ; Maria Rosaria,Licenziati ^[2] ; Daniele,De Brasi ^[3] ; Graziella,Leone ^[1] ; Sara,Balzano ^[4] ; Antonella,Izzo ^[1] ; Ferdinando,Bonfiglio ^[1] ; Anna,Conti ^[1] ; Gennaro,Fioretti ^[5] ; Selvaggia,Lenta ^[2] ; Maria Rita,Poggiano ^[2] ; Paolo,Siani ^[3] ; Lucio,Nitsch ^[1]

作者单位： Department of Molecular Medicine and Medical Biotechnology, University of Naples "Federico II", Naples, Italy. ^[1] Unit of Auxology and Endocrinology, Department of Pediatrics, AORN Santobono-Pausilipon, Naples, Italy. ^[2] Medical Genetics and Pediatric Unit, Department of Pediatrics, AORN Santobono-Pausilipon, Naples, Italy. ^[3] Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland. ^[4] Medical Genetics Unit, AORN "A. Cardarelli", Naples, Italy. ^[5]

关键词 Chromosomal position effect DIAPH2 FMR1 Primary ovarian insufficiency Turner syndrome X chromosome translocation X;autosome translocation

DOI 10.1186/s13039-015-0154-3

PMID 26175800

发布时间 2024-05-16

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Molecular cytogenetics

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Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation.

Molecular cytogenetics

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Molecular cytogenetics

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Short stature and primary ovarian insufficiency possibly due to chromosomal position effect in a balanced X;1 translocation.

Molecular cytogenetics

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Molecular cytogenetics

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