Interstitial 14q24.3 to q31.3 deletion in a 6 year old boy with a nonspecific dysmorphic phenotype
Autor(a) principal: | |
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Data de Publicação: | 2014 |
Outros Autores: | , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UFRGS |
Texto Completo: | http://hdl.handle.net/10183/129901 |
Resumo: | Background 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. |
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Riegel, MariluceMoreira, Lília Maria de AzevedoEspírito Santo, Layla Damasceno doToralles, Maria Betânia PereiraSchinzel, Albert2015-11-19T02:39:35Z20141755-8166http://hdl.handle.net/10183/129901000953730Background 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.application/pdfengMolecular Cytogenetics. London. Vol. 7, (2014), p. 77, [4] p.Genética médicaCromossomos humanos par 14Genotypephenotype correlation14q interstitial deletionArrayCGHInterstitial 14q24.3 to q31.3 deletion in a 6 year old boy with a nonspecific dysmorphic phenotypeEstrangeiroinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFRGSinstname:Universidade Federal do Rio Grande do Sul (UFRGS)instacron:UFRGSORIGINAL000953730.pdf000953730.pdfTexto completo (inglês)application/pdf224421http://www.lume.ufrgs.br/bitstream/10183/129901/1/000953730.pdf57a8e4ed488f09ced42974434da636bcMD51TEXT000953730.pdf.txt000953730.pdf.txtExtracted Texttext/plain28274http://www.lume.ufrgs.br/bitstream/10183/129901/2/000953730.pdf.txtf5556c0ae6d372669174015c7191b007MD52THUMBNAIL000953730.pdf.jpg000953730.pdf.jpgGenerated Thumbnailimage/jpeg1838http://www.lume.ufrgs.br/bitstream/10183/129901/3/000953730.pdf.jpg0520eba00370932abf7f79a802241f2aMD5310183/1299012021-09-18 04:42:22.686863oai:www.lume.ufrgs.br:10183/129901Repositório de PublicaçõesPUBhttps://lume.ufrgs.br/oai/requestopendoar:2021-09-18T07:42:22Repositório Institucional da UFRGS - Universidade Federal do Rio Grande do Sul (UFRGS)false |
dc.title.pt_BR.fl_str_mv |
Interstitial 14q24.3 to q31.3 deletion in a 6 year old boy with a nonspecific dysmorphic phenotype |
title |
Interstitial 14q24.3 to q31.3 deletion in a 6 year old boy with a nonspecific dysmorphic phenotype |
spellingShingle |
Interstitial 14q24.3 to q31.3 deletion in a 6 year old boy with a nonspecific dysmorphic phenotype Riegel, Mariluce Genética médica Cromossomos humanos par 14 Genotypephenotype correlation 14q interstitial deletion ArrayCGH |
title_short |
Interstitial 14q24.3 to q31.3 deletion in a 6 year old boy with a nonspecific dysmorphic phenotype |
title_full |
Interstitial 14q24.3 to q31.3 deletion in a 6 year old boy with a nonspecific dysmorphic phenotype |
title_fullStr |
Interstitial 14q24.3 to q31.3 deletion in a 6 year old boy with a nonspecific dysmorphic phenotype |
title_full_unstemmed |
Interstitial 14q24.3 to q31.3 deletion in a 6 year old boy with a nonspecific dysmorphic phenotype |
title_sort |
Interstitial 14q24.3 to q31.3 deletion in a 6 year old boy with a nonspecific dysmorphic phenotype |
author |
Riegel, Mariluce |
author_facet |
Riegel, Mariluce Moreira, Lília Maria de Azevedo Espírito Santo, Layla Damasceno do Toralles, Maria Betânia Pereira Schinzel, Albert |
author_role |
author |
author2 |
Moreira, Lília Maria de Azevedo Espírito Santo, Layla Damasceno do Toralles, Maria Betânia Pereira Schinzel, Albert |
author2_role |
author author author author |
dc.contributor.author.fl_str_mv |
Riegel, Mariluce Moreira, Lília Maria de Azevedo Espírito Santo, Layla Damasceno do Toralles, Maria Betânia Pereira Schinzel, Albert |
dc.subject.por.fl_str_mv |
Genética médica Cromossomos humanos par 14 |
topic |
Genética médica Cromossomos humanos par 14 Genotypephenotype correlation 14q interstitial deletion ArrayCGH |
dc.subject.eng.fl_str_mv |
Genotypephenotype correlation 14q interstitial deletion ArrayCGH |
description |
Background 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. |
publishDate |
2014 |
dc.date.issued.fl_str_mv |
2014 |
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2015-11-19T02:39:35Z |
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Estrangeiro info:eu-repo/semantics/article |
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Molecular Cytogenetics. London. Vol. 7, (2014), p. 77, [4] p. |
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openAccess |
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