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dc.contributor.authorRiegel, Marilucept_BR
dc.contributor.authorMoreira, Lília Maria de Azevedopt_BR
dc.contributor.authorEspírito Santo, Layla Damasceno dopt_BR
dc.contributor.authorToralles, Maria Betânia Pereirapt_BR
dc.contributor.authorSchinzel, Albertpt_BR
dc.date.accessioned2015-11-19T02:39:35Zpt_BR
dc.date.issued2014pt_BR
dc.identifier.issn1755-8166pt_BR
dc.identifier.urihttp://hdl.handle.net/10183/129901pt_BR
dc.description.abstractBackground Few patients with interstitial deletions in the distal long arm of chromosome 14 have been reported, and these patients showed rather indistinct features, including growth and mental retardation and phenotypic alterations. Results We describe a de novo 14q interstitial deletion in a 6yearold boy with dysmorphic facial traits such as hypertelorism, short and narrow palpebral fissures, broad nose with anteverted nostrils, long philtrum, thin upper lip with cupid’s bow, prominent and everted lower lip, mildly lowset ears, as well as moderate developmental delay and mild mental retardation. ArrayCGH mapped the deletion to the region 14q24.3 to 14q31.3, including 13.11 Mb, proximal to the imprinted genomic region of 14q32. Conclusion This mild phenotypic presentation suggests that the deleted segment does not contain essential genes for early organ development. Twentytwo genes with known functions, including Neurexin III (NRXN3, OMIM 600567), map to the region deleted in the propositus.en
dc.format.mimetypeapplication/pdf
dc.language.isoengpt_BR
dc.relation.ispartofMolecular Cytogenetics. London. Vol. 7, (2014), p. 77, [4] p.pt_BR
dc.rightsOpen Accessen
dc.subjectGenotypephenotype correlationen
dc.subjectGenética médicapt_BR
dc.subject14q interstitial deletionen
dc.subjectCromossomos humanos par 14pt_BR
dc.subjectArrayCGHen
dc.titleInterstitial 14q24.3 to q31.3 deletion in a 6 year old boy with a nonspecific dysmorphic phenotypept_BR
dc.typeArtigo de periódicopt_BR
dc.identifier.nrb000953730pt_BR
dc.type.originEstrangeiropt_BR


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