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Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature

2011; Wiley; Volume: 158A; Issue: 2 Linguagem: Inglês

10.1002/ajmg.a.34398

ISSN

1552-4833

Autores

Flavio Faletra, Pio D’Adamo, Maria Santa Rocca, Marco Carrozzi, Maria Dolores Perrone, Vanna Pecile, Paolo Gasparini,

Tópico(s)

Genetics and Neurodevelopmental Disorders

Resumo

American Journal of Medical Genetics Part AVolume 158A, Issue 2 p. 461-464 Research Letter Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature†‡ Flavio Faletra, Corresponding Author Flavio Faletra [email protected] Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, ItalyMedical Genetics, Department of Reproductive Sciences and Development, Institute of Child Health IRCCS-Burlo Garofolo, Via dell'Istria 65, 34137 Trieste, Italy.Search for more papers by this authorAdamo Pio D'Adamo, Adamo Pio D'Adamo Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", University of Trieste, Trieste, ItalySearch for more papers by this authorMaria Santa Rocca, Maria Santa Rocca Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, ItalySearch for more papers by this authorMarco Carrozzi, Marco Carrozzi Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, ItalySearch for more papers by this authorMaria Dolores Perrone, Maria Dolores Perrone Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", University of Trieste, Trieste, ItalySearch for more papers by this authorVanna Pecile, Vanna Pecile Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, ItalySearch for more papers by this authorPaolo Gasparini, Paolo Gasparini Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", University of Trieste, Trieste, ItalySearch for more papers by this author Flavio Faletra, Corresponding Author Flavio Faletra [email protected] Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, ItalyMedical Genetics, Department of Reproductive Sciences and Development, Institute of Child Health IRCCS-Burlo Garofolo, Via dell'Istria 65, 34137 Trieste, Italy.Search for more papers by this authorAdamo Pio D'Adamo, Adamo Pio D'Adamo Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", University of Trieste, Trieste, ItalySearch for more papers by this authorMaria Santa Rocca, Maria Santa Rocca Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, ItalySearch for more papers by this authorMarco Carrozzi, Marco Carrozzi Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, ItalySearch for more papers by this authorMaria Dolores Perrone, Maria Dolores Perrone Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", University of Trieste, Trieste, ItalySearch for more papers by this authorVanna Pecile, Vanna Pecile Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, ItalySearch for more papers by this authorPaolo Gasparini, Paolo Gasparini Institute for Maternal and Child Health, IRCCS "Burlo Garofolo", University of Trieste, Trieste, ItalySearch for more papers by this author First published: 02 December 2011 https://doi.org/10.1002/ajmg.a.34398Citations: 17 † How to Cite this Article: Faletra F, D'Adamo AP, Rocca MS, Carrozzi M, Perrone MD, Pecile V, Gasparini P. 2012. Does the 1.5 Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature. Am J Med Genet Part A 158A:461–464. ‡ The authors declare no conflicts of interest. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL REFERENCES Baldwin EL, Lee JY, Blake DM, Bunke BP, Alexander CR, Kogan AL, Ledbetter DH, Martin CL. 2008. Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray. Genet Med 10: 415– 429. Carrel L, Willard H. 2005. 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