Autism associated with 12q (12q24.31-q24.33) deletion: further report of an exceedingly rare disorder
Autor(a) principal: | |
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Data de Publicação: | 2020 |
Outros Autores: | , , , , |
Tipo de documento: | Relatório |
Idioma: | eng |
Título da fonte: | Einstein (São Paulo) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082020000100510 |
Resumo: | ABSTRACT Chromosomal abnormalities are responsible for several congenital malformations in the world, some of these are associated to telomeric/subtelomeric deletions. The abnormalities involving the telomere of chromosome 12 are rare, with few reports of deletions involving 12q24.31 region in the literature, and, to our knowledge, only four of them in the 12q24.31-q24.33 region. We report a further case of interstitial deletion of bands 12q24.31-q24.33 associated with autism spectrum disorder. A 2-year-old boy with global developmental delay associated with multiple congenital anomalies. The Human Genome CGH Microarray 60K confirmed the diagnosis of 12q deletion syndrome. This study made a review of the current literature comparing our patient with previously reported cases. These detailed analyses contribute to the development of genotype/phenotype correlations for 12q deletions that will aid in better diagnosis and prognosis of this deletion. |
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Autism associated with 12q (12q24.31-q24.33) deletion: further report of an exceedingly rare disorderChromosome aberrationsNervous system malformationsDevelopmental disabilitiesAutism spectrum disorder12q24.31 deletion syndromeABSTRACT Chromosomal abnormalities are responsible for several congenital malformations in the world, some of these are associated to telomeric/subtelomeric deletions. The abnormalities involving the telomere of chromosome 12 are rare, with few reports of deletions involving 12q24.31 region in the literature, and, to our knowledge, only four of them in the 12q24.31-q24.33 region. We report a further case of interstitial deletion of bands 12q24.31-q24.33 associated with autism spectrum disorder. A 2-year-old boy with global developmental delay associated with multiple congenital anomalies. The Human Genome CGH Microarray 60K confirmed the diagnosis of 12q deletion syndrome. This study made a review of the current literature comparing our patient with previously reported cases. These detailed analyses contribute to the development of genotype/phenotype correlations for 12q deletions that will aid in better diagnosis and prognosis of this deletion.Instituto Israelita de Ensino e Pesquisa Albert Einstein2020-01-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082020000100510einstein (São Paulo) v.18 2020reponame:Einstein (São Paulo)instname:Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE)instacron:IIEPAE10.31744/einstein_journal/2020rc5335info:eu-repo/semantics/openAccessLin,JaimeSouza-Lin,Gigliolle Romancini deAntunes,Fernanda CoanWessler,Letícia BuratoStreck,Emílio LuizGonçalves,Cinara Ludvigeng2020-06-15T00:00:00Zoai:scielo:S1679-45082020000100510Revistahttps://journal.einstein.br/pt-br/ONGhttps://old.scielo.br/oai/scielo-oai.php||revista@einstein.br2317-63851679-4508opendoar:2020-06-15T00:00Einstein (São Paulo) - Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE)false |
dc.title.none.fl_str_mv |
Autism associated with 12q (12q24.31-q24.33) deletion: further report of an exceedingly rare disorder |
title |
Autism associated with 12q (12q24.31-q24.33) deletion: further report of an exceedingly rare disorder |
spellingShingle |
Autism associated with 12q (12q24.31-q24.33) deletion: further report of an exceedingly rare disorder Lin,Jaime Chromosome aberrations Nervous system malformations Developmental disabilities Autism spectrum disorder 12q24.31 deletion syndrome |
title_short |
Autism associated with 12q (12q24.31-q24.33) deletion: further report of an exceedingly rare disorder |
title_full |
Autism associated with 12q (12q24.31-q24.33) deletion: further report of an exceedingly rare disorder |
title_fullStr |
Autism associated with 12q (12q24.31-q24.33) deletion: further report of an exceedingly rare disorder |
title_full_unstemmed |
Autism associated with 12q (12q24.31-q24.33) deletion: further report of an exceedingly rare disorder |
title_sort |
Autism associated with 12q (12q24.31-q24.33) deletion: further report of an exceedingly rare disorder |
author |
Lin,Jaime |
author_facet |
Lin,Jaime Souza-Lin,Gigliolle Romancini de Antunes,Fernanda Coan Wessler,Letícia Burato Streck,Emílio Luiz Gonçalves,Cinara Ludvig |
author_role |
author |
author2 |
Souza-Lin,Gigliolle Romancini de Antunes,Fernanda Coan Wessler,Letícia Burato Streck,Emílio Luiz Gonçalves,Cinara Ludvig |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Lin,Jaime Souza-Lin,Gigliolle Romancini de Antunes,Fernanda Coan Wessler,Letícia Burato Streck,Emílio Luiz Gonçalves,Cinara Ludvig |
dc.subject.por.fl_str_mv |
Chromosome aberrations Nervous system malformations Developmental disabilities Autism spectrum disorder 12q24.31 deletion syndrome |
topic |
Chromosome aberrations Nervous system malformations Developmental disabilities Autism spectrum disorder 12q24.31 deletion syndrome |
description |
ABSTRACT Chromosomal abnormalities are responsible for several congenital malformations in the world, some of these are associated to telomeric/subtelomeric deletions. The abnormalities involving the telomere of chromosome 12 are rare, with few reports of deletions involving 12q24.31 region in the literature, and, to our knowledge, only four of them in the 12q24.31-q24.33 region. We report a further case of interstitial deletion of bands 12q24.31-q24.33 associated with autism spectrum disorder. A 2-year-old boy with global developmental delay associated with multiple congenital anomalies. The Human Genome CGH Microarray 60K confirmed the diagnosis of 12q deletion syndrome. This study made a review of the current literature comparing our patient with previously reported cases. These detailed analyses contribute to the development of genotype/phenotype correlations for 12q deletions that will aid in better diagnosis and prognosis of this deletion. |
publishDate |
2020 |
dc.date.none.fl_str_mv |
2020-01-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/report |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
report |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082020000100510 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1679-45082020000100510 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.31744/einstein_journal/2020rc5335 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Instituto Israelita de Ensino e Pesquisa Albert Einstein |
publisher.none.fl_str_mv |
Instituto Israelita de Ensino e Pesquisa Albert Einstein |
dc.source.none.fl_str_mv |
einstein (São Paulo) v.18 2020 reponame:Einstein (São Paulo) instname:Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE) instacron:IIEPAE |
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Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE) |
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IIEPAE |
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IIEPAE |
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Einstein (São Paulo) |
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Einstein (São Paulo) |
repository.name.fl_str_mv |
Einstein (São Paulo) - Instituto Israelita de Ensino e Pesquisa Albert Einstein (IIEPAE) |
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||revista@einstein.br |
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