Searching chromosome mosaicisms in 45,X Turner syndrome: how relevant is it?
Autor(a) principal: | |
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Data de Publicação: | 2021 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Arquivos de Endocrinologia e Metabolismo (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972021000600739 |
Resumo: | ABSTRACT Objective: To investigate the presence of chromosome mosaicism, especially for the presence of Y derived material in 45,X women with Turner syndrome (TS). Materials and methods: FISH and PCR were performed for the presence of chromosome mosaicism and Y-derived-material and genetic findings were correlated to clinical data. Results: Thirty-one participants were enrolled: 18 (58%) had chromosome mosaicisms (FISH), Y-derived material was found in 2. Yet, SRY primer was found with PCR in only one of them and DYZ3 was not found. The most frequent clinical findings were short or webbed neck (81,82%), high-arched palate (78%), breast hypertelorism, e cubitus valgus and genu valgus (57.6%, both), short fourth metacarpals (46.9%), epicanthic folds (43.8%), shield chest (43.8%), lymphedema (37.5%), and low set ears (34.4%). Both patients with Y-derived-material had primary amenorrhea, dyslipidemia and reached the height of 150 cm despite not treated with recombinant growth hormone (GHr). One of them showed 26% of leukocytes with Y-derived material and few clinical findings. Conclusions: FISH techniques proved efficient in detecting chromosome mosaicisms and Y-derived material and searching in different tissues such as mouth cells is critical due to the possibility of tissue-specific mosaicism. Phenotypical variance in TS may be a signal of chromosome mosaicisms, especially with the presence of Y-derived material. |
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Searching chromosome mosaicisms in 45,X Turner syndrome: how relevant is it?Turner syndromePCRFISH techniquemosaicismmonosomy XABSTRACT Objective: To investigate the presence of chromosome mosaicism, especially for the presence of Y derived material in 45,X women with Turner syndrome (TS). Materials and methods: FISH and PCR were performed for the presence of chromosome mosaicism and Y-derived-material and genetic findings were correlated to clinical data. Results: Thirty-one participants were enrolled: 18 (58%) had chromosome mosaicisms (FISH), Y-derived material was found in 2. Yet, SRY primer was found with PCR in only one of them and DYZ3 was not found. The most frequent clinical findings were short or webbed neck (81,82%), high-arched palate (78%), breast hypertelorism, e cubitus valgus and genu valgus (57.6%, both), short fourth metacarpals (46.9%), epicanthic folds (43.8%), shield chest (43.8%), lymphedema (37.5%), and low set ears (34.4%). Both patients with Y-derived-material had primary amenorrhea, dyslipidemia and reached the height of 150 cm despite not treated with recombinant growth hormone (GHr). One of them showed 26% of leukocytes with Y-derived material and few clinical findings. Conclusions: FISH techniques proved efficient in detecting chromosome mosaicisms and Y-derived material and searching in different tissues such as mouth cells is critical due to the possibility of tissue-specific mosaicism. Phenotypical variance in TS may be a signal of chromosome mosaicisms, especially with the presence of Y-derived material.Sociedade Brasileira de Endocrinologia e Metabologia2021-12-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972021000600739Archives of Endocrinology and Metabolism v.65 n.6 2021reponame:Arquivos de Endocrinologia e Metabolismo (Online)instname:Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)instacron:SBEM10.20945/2359-3997000000403info:eu-repo/semantics/openAccessSoares,Jéssica SilvaLago,Renata Maria Rabello da SilvaToralles,Maria Betânia PereiraMota,Laís RibeiroAlves,Esmeralda SantosCarvalho,Acácia Fernandes Lacerda deeng2021-12-03T00:00:00Zoai:scielo:S2359-39972021000600739Revistahttps://www.aem-sbem.com/https://old.scielo.br/oai/scielo-oai.php||aem.editorial.office@endocrino.org.br2359-42922359-3997opendoar:2021-12-03T00:00Arquivos de Endocrinologia e Metabolismo (Online) - Sociedade Brasileira de Endocrinologia e Metabologia (SBEM)false |
dc.title.none.fl_str_mv |
Searching chromosome mosaicisms in 45,X Turner syndrome: how relevant is it? |
title |
Searching chromosome mosaicisms in 45,X Turner syndrome: how relevant is it? |
spellingShingle |
Searching chromosome mosaicisms in 45,X Turner syndrome: how relevant is it? Soares,Jéssica Silva Turner syndrome PCR FISH technique mosaicism monosomy X |
title_short |
Searching chromosome mosaicisms in 45,X Turner syndrome: how relevant is it? |
title_full |
Searching chromosome mosaicisms in 45,X Turner syndrome: how relevant is it? |
title_fullStr |
Searching chromosome mosaicisms in 45,X Turner syndrome: how relevant is it? |
title_full_unstemmed |
Searching chromosome mosaicisms in 45,X Turner syndrome: how relevant is it? |
title_sort |
Searching chromosome mosaicisms in 45,X Turner syndrome: how relevant is it? |
author |
Soares,Jéssica Silva |
author_facet |
Soares,Jéssica Silva Lago,Renata Maria Rabello da Silva Toralles,Maria Betânia Pereira Mota,Laís Ribeiro Alves,Esmeralda Santos Carvalho,Acácia Fernandes Lacerda de |
author_role |
author |
author2 |
Lago,Renata Maria Rabello da Silva Toralles,Maria Betânia Pereira Mota,Laís Ribeiro Alves,Esmeralda Santos Carvalho,Acácia Fernandes Lacerda de |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Soares,Jéssica Silva Lago,Renata Maria Rabello da Silva Toralles,Maria Betânia Pereira Mota,Laís Ribeiro Alves,Esmeralda Santos Carvalho,Acácia Fernandes Lacerda de |
dc.subject.por.fl_str_mv |
Turner syndrome PCR FISH technique mosaicism monosomy X |
topic |
Turner syndrome PCR FISH technique mosaicism monosomy X |
description |
ABSTRACT Objective: To investigate the presence of chromosome mosaicism, especially for the presence of Y derived material in 45,X women with Turner syndrome (TS). Materials and methods: FISH and PCR were performed for the presence of chromosome mosaicism and Y-derived-material and genetic findings were correlated to clinical data. Results: Thirty-one participants were enrolled: 18 (58%) had chromosome mosaicisms (FISH), Y-derived material was found in 2. Yet, SRY primer was found with PCR in only one of them and DYZ3 was not found. The most frequent clinical findings were short or webbed neck (81,82%), high-arched palate (78%), breast hypertelorism, e cubitus valgus and genu valgus (57.6%, both), short fourth metacarpals (46.9%), epicanthic folds (43.8%), shield chest (43.8%), lymphedema (37.5%), and low set ears (34.4%). Both patients with Y-derived-material had primary amenorrhea, dyslipidemia and reached the height of 150 cm despite not treated with recombinant growth hormone (GHr). One of them showed 26% of leukocytes with Y-derived material and few clinical findings. Conclusions: FISH techniques proved efficient in detecting chromosome mosaicisms and Y-derived material and searching in different tissues such as mouth cells is critical due to the possibility of tissue-specific mosaicism. Phenotypical variance in TS may be a signal of chromosome mosaicisms, especially with the presence of Y-derived material. |
publishDate |
2021 |
dc.date.none.fl_str_mv |
2021-12-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972021000600739 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-39972021000600739 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.20945/2359-3997000000403 |
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 |
Sociedade Brasileira de Endocrinologia e Metabologia |
publisher.none.fl_str_mv |
Sociedade Brasileira de Endocrinologia e Metabologia |
dc.source.none.fl_str_mv |
Archives of Endocrinology and Metabolism v.65 n.6 2021 reponame:Arquivos de Endocrinologia e Metabolismo (Online) instname:Sociedade Brasileira de Endocrinologia e Metabologia (SBEM) instacron:SBEM |
instname_str |
Sociedade Brasileira de Endocrinologia e Metabologia (SBEM) |
instacron_str |
SBEM |
institution |
SBEM |
reponame_str |
Arquivos de Endocrinologia e Metabolismo (Online) |
collection |
Arquivos de Endocrinologia e Metabolismo (Online) |
repository.name.fl_str_mv |
Arquivos de Endocrinologia e Metabolismo (Online) - Sociedade Brasileira de Endocrinologia e Metabologia (SBEM) |
repository.mail.fl_str_mv |
||aem.editorial.office@endocrino.org.br |
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1752122518394634240 |