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Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy.

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Title: Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy.
Authors: Valetto A; Cytogenetics and Molecular Genetic Unit, A.O.U. Pisana, Ospedale S. Chiara, via Roma 57, Pisa, Italy. a.valetto@ao-pisa.toscana.it, Orsini A, Bertini V, Toschi B, Bonuccelli A, Simi F, Sammartino I, Taddeucci G, Simi P, Saggese G
Source: European journal of medical genetics [Eur J Med Genet] 2012 May; Vol. 55 (5), pp. 362-6. Date of Electronic Publication: 2012 Apr 24.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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PubType: Academic Journal
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  Data: Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy.
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  Data: <searchLink fieldCode="AU" term="%22Valetto+A%22">Valetto A</searchLink>; Cytogenetics and Molecular Genetic Unit, A.O.U. Pisana, Ospedale S. Chiara, via Roma 57, Pisa, Italy. a.valetto@ao-pisa.toscana.it<br /><searchLink fieldCode="AU" term="%22Orsini+A%22">Orsini A</searchLink><br /><searchLink fieldCode="AU" term="%22Bertini+V%22">Bertini V</searchLink><br /><searchLink fieldCode="AU" term="%22Toschi+B%22">Toschi B</searchLink><br /><searchLink fieldCode="AU" term="%22Bonuccelli+A%22">Bonuccelli A</searchLink><br /><searchLink fieldCode="AU" term="%22Simi+F%22">Simi F</searchLink><br /><searchLink fieldCode="AU" term="%22Sammartino+I%22">Sammartino I</searchLink><br /><searchLink fieldCode="AU" term="%22Taddeucci+G%22">Taddeucci G</searchLink><br /><searchLink fieldCode="AU" term="%22Simi+P%22">Simi P</searchLink><br /><searchLink fieldCode="AU" term="%22Saggese+G%22">Saggese G</searchLink>
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  Data: <searchLink fieldCode="JN" term="%22101247089%22">European journal of medical genetics</searchLink> [Eur J Med Genet] 2012 May; Vol. 55 (5), pp. 362-6. <i>Date of Electronic Publication: </i>2012 Apr 24.
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  Data: Case Reports; Journal Article
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>101247089 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1878-0849 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217697212%22">17697212 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Med Genet <i>Subsets: </i>MEDLINE
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        Value: 10.1016/j.ejmg.2012.03.011
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      – Code: eng
        Text: English
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      – TitleFull: Molecular cytogenetic characterization of an interstitial deletion of chromosome 21 (21q22.13q22.3) in a patient with dysmorphic features, intellectual disability and severe generalized epilepsy.
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              M: 05
              Text: 2012 May
              Type: published
              Y: 2012
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