Small deletion in the critical region of Cri-du-chat syndrome associated with cat-like cry
Autor(a) principal: | |
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Data de Publicação: | 2023 |
Outros Autores: | , |
Tipo de documento: | Relatório |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542023000300228 |
Resumo: | Abstract Cri-du-chat syndrome is a rare disorder caused by a deletion of part of the short arm of chromosome 5. It is characterized by the presence of clinical features at birth, namely cat-like cry, low weight, microcephaly, and facial dysmorphism. The corresponding phenotypes vary from minimal features to a complete phenotype. Herein is described the case of an infant who presented from birth with cat-like cry and a peculiar face with a wide nasal bridge and thin upper lip. The genetic study revealed a very small deletion on the short arm of chromosome 5, which has not been described in the literature and may represent a novel variant of this recurrent deletion. Furthermore, since the main feature of this case is the cat-like cry, the considered deletion (detected only by microarray analysis) could be associated with this specific feature. |
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7160 |
spelling |
Small deletion in the critical region of Cri-du-chat syndrome associated with cat-like crycat-like crychromosome 5Cri-du-chatfacial dysmorphismmicrocephalyAbstract Cri-du-chat syndrome is a rare disorder caused by a deletion of part of the short arm of chromosome 5. It is characterized by the presence of clinical features at birth, namely cat-like cry, low weight, microcephaly, and facial dysmorphism. The corresponding phenotypes vary from minimal features to a complete phenotype. Herein is described the case of an infant who presented from birth with cat-like cry and a peculiar face with a wide nasal bridge and thin upper lip. The genetic study revealed a very small deletion on the short arm of chromosome 5, which has not been described in the literature and may represent a novel variant of this recurrent deletion. Furthermore, since the main feature of this case is the cat-like cry, the considered deletion (detected only by microarray analysis) could be associated with this specific feature.Centro Hospitalar do Porto2023-09-01info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/reporttext/htmlhttp://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542023000300228Nascer e Crescer v.32 n.3 2023reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPenghttp://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542023000300228Freitas,CatarinaRendeiro,PaulaCosta,Maria Joséinfo:eu-repo/semantics/openAccess2024-02-06T17:06:39Zoai:scielo:S0872-07542023000300228Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-20T02:19:55.322868Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Small deletion in the critical region of Cri-du-chat syndrome associated with cat-like cry |
title |
Small deletion in the critical region of Cri-du-chat syndrome associated with cat-like cry |
spellingShingle |
Small deletion in the critical region of Cri-du-chat syndrome associated with cat-like cry Freitas,Catarina cat-like cry chromosome 5 Cri-du-chat facial dysmorphism microcephaly |
title_short |
Small deletion in the critical region of Cri-du-chat syndrome associated with cat-like cry |
title_full |
Small deletion in the critical region of Cri-du-chat syndrome associated with cat-like cry |
title_fullStr |
Small deletion in the critical region of Cri-du-chat syndrome associated with cat-like cry |
title_full_unstemmed |
Small deletion in the critical region of Cri-du-chat syndrome associated with cat-like cry |
title_sort |
Small deletion in the critical region of Cri-du-chat syndrome associated with cat-like cry |
author |
Freitas,Catarina |
author_facet |
Freitas,Catarina Rendeiro,Paula Costa,Maria José |
author_role |
author |
author2 |
Rendeiro,Paula Costa,Maria José |
author2_role |
author author |
dc.contributor.author.fl_str_mv |
Freitas,Catarina Rendeiro,Paula Costa,Maria José |
dc.subject.por.fl_str_mv |
cat-like cry chromosome 5 Cri-du-chat facial dysmorphism microcephaly |
topic |
cat-like cry chromosome 5 Cri-du-chat facial dysmorphism microcephaly |
description |
Abstract Cri-du-chat syndrome is a rare disorder caused by a deletion of part of the short arm of chromosome 5. It is characterized by the presence of clinical features at birth, namely cat-like cry, low weight, microcephaly, and facial dysmorphism. The corresponding phenotypes vary from minimal features to a complete phenotype. Herein is described the case of an infant who presented from birth with cat-like cry and a peculiar face with a wide nasal bridge and thin upper lip. The genetic study revealed a very small deletion on the short arm of chromosome 5, which has not been described in the literature and may represent a novel variant of this recurrent deletion. Furthermore, since the main feature of this case is the cat-like cry, the considered deletion (detected only by microarray analysis) could be associated with this specific feature. |
publishDate |
2023 |
dc.date.none.fl_str_mv |
2023-09-01 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/report |
format |
report |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542023000300228 |
url |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542023000300228 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
http://scielo.pt/scielo.php?script=sci_arttext&pid=S0872-07542023000300228 |
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 |
Centro Hospitalar do Porto |
publisher.none.fl_str_mv |
Centro Hospitalar do Porto |
dc.source.none.fl_str_mv |
Nascer e Crescer v.32 n.3 2023 reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
instname_str |
Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
repository.mail.fl_str_mv |
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1799137288878292992 |