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La diagnosi prenatale della sindrome di Klinefelter

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L'Endocrinologo Aims and scope

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Il cariotipo 47,XXY, correlato con la sindrome di Klinefelter, è presente in circa un maschio ogni 700. Si ritiene che il 12–15% dei soggetti venga identificato durante la gravidanza, mediante la diagnosi prenatale. La diagnosi prenatale di un’aneuploidia dei cromosomi sessuali è frequente ma sempre inaspettata. È necessaria la presa in carico della coppia che riceve questa diagnosi durante la gravidanza con la strutturazione di un team multidisciplinare che garantisca un’informazione completa e neutrale e possa assistere la coppia nel percorso di scelta.

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Conflitto di interesse

Gli autori Faustina Lalatta, Vera Bianchi, Roberto Fogliani, Donatella Quagliarini, Silvana Guerneri, Gaia Silibello, Paola Vizziello e Luigi Gargantini dichiarano di non avere conflitti di interesse.

Consenso informato

Lo studio presentato in questo articolo non ha richiesto sperimentazione umana.

Studi sugli animali

Gli autori di questo articolo non hanno eseguito studi sugli animali.

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Authors and Affiliations

  1. UOSD di Genetica Medica, Dipartimento della donna del bambino del neonato, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Via della Commenda 12, 20122, Milano, Italia

    Faustina Lalatta, Vera Bianchi & Luigi Gargantini

  2. UOS di Diagnosi Prenatale, Clinica Ostetrico-Ginecologica, Dipartimento della donna del bambino del neonato, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milano, Italia

    Roberto Fogliani & Donatella Quagliarini

  3. Laboratorio di Genetica Medica, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milano, Italia

    Silvana Guerneri

  4. UONPIA, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milano, Italia

    Gaia Silibello & Paola Vizziello

Authors
  1. Faustina Lalatta
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  2. Vera Bianchi
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  3. Roberto Fogliani
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  4. Donatella Quagliarini
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  5. Silvana Guerneri
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  6. Gaia Silibello
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  7. Paola Vizziello
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  8. Luigi Gargantini
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Corresponding author

Correspondence to Faustina Lalatta.

Additional information

Proposta da F. Lanfranco.

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Lalatta, F., Bianchi, V., Fogliani, R. et al. La diagnosi prenatale della sindrome di Klinefelter. L'Endocrinologo 15, 247–252 (2014). https://doi.org/10.1007/s40619-014-0063-4

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  • DOI: https://doi.org/10.1007/s40619-014-0063-4

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