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Reciprocal Xp11.4p11.3 microdeletion/microduplication spanning USP9X, DDX3X, and CASK genes in two patients with syndromic intellectual disability.
Catino, Giorgia; Genovese, Silvia; Di Tommaso, Silvia; Orlando, Valeria; Petti, Maria Teresa; De Bernardi, Margherita Lucia; Dallapiccola, Bruno; Novelli, Antonio; Ulgheri, Lucia; Piscopo, Carmelo; Alesi, Viola.
Afiliación
  • Catino G; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
  • Genovese S; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
  • Di Tommaso S; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
  • Orlando V; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
  • Petti MT; Department of Molecular Medicine and Medical Biotechnology, University Federico II, Naples, Italy.
  • De Bernardi ML; Department of Molecular Medicine and Medical Biotechnology, University Federico II, Naples, Italy.
  • Dallapiccola B; Genetics and Rare Disease Research Division, Bambino Gesu Children Hospital, IRCCS, Rome, Italy.
  • Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
  • Ulgheri L; Department of Biomedical Sciences, Clinical Genetics Service, Azienda Ospedaliero-Universitaria, Sassari, Italy.
  • Piscopo C; Department of Molecular Medicine and Medical Biotechnology, University Federico II, Naples, Italy.
  • Alesi V; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.
Am J Med Genet A ; 188(6): 1836-1847, 2022 06.
Article en En | MEDLINE | ID: mdl-35238482
ABSTRACT
Only a few patients with deletions or duplications at Xp11.4, bridging USP9X, DDX3X, and CASK genes, have been described so far. Here, we report on a female harboring a de novo Xp11.4p11.3 deletion and a male with an overlapping duplication inherited from an unaffected mother, presenting with syndromic intellectual disability. We discuss the role of USP9X, DDX3X, and CASK genes in human development and describe the effects of Xp11.4 deletion and duplications in female and male patients, respectively.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Discapacidad Intelectual Límite: Female / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Italia
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Discapacidad Intelectual Límite: Female / Humans / Male Idioma: En Revista: Am J Med Genet A Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Italia