Clinicopathological features of 45,X/46,Xidic(Y) mosaicism and therapeutic implications: case report
Autor(a) principal: | |
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Data de Publicação: | 2008 |
Outros Autores: | , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | São Paulo medical journal (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802008000500012 |
Resumo: | CONTEXT: 45,X/46,Xidic(Y) mosaicism demands careful and thorough study because of both its variable clinical features and its potential complications. CASE REPORT: The present case relates to a three-year-old girl with the mosaic karyotype 46,X,idic(Y)(q11.2)[23]/45,X[6]. She had no signs of virilization or Turner's syndrome phenotype, but she was referred to our hospital because she presented reduced growth rate, abnormal facies and a melanotic nevus. After examination, she underwent prophylactic gonadectomy because of the risk of gonadoblastoma. Cytogenetic analysis on the streak gonads and blood showed significant differences in the 45,X cell line between these two tissues. The presence of the sex-determining region Y (SRY) gene did not determine male differentiation, which meant in the present case that the predominance of the X cell line in the gonadal tissue was probably due to the determining factor for female sexual differentiation. |
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Clinicopathological features of 45,X/46,Xidic(Y) mosaicism and therapeutic implications: case reportMosaicismIn situ hybridizationfluorescenceGonadoblastomaTurner syndromeNevusCONTEXT: 45,X/46,Xidic(Y) mosaicism demands careful and thorough study because of both its variable clinical features and its potential complications. CASE REPORT: The present case relates to a three-year-old girl with the mosaic karyotype 46,X,idic(Y)(q11.2)[23]/45,X[6]. She had no signs of virilization or Turner's syndrome phenotype, but she was referred to our hospital because she presented reduced growth rate, abnormal facies and a melanotic nevus. After examination, she underwent prophylactic gonadectomy because of the risk of gonadoblastoma. Cytogenetic analysis on the streak gonads and blood showed significant differences in the 45,X cell line between these two tissues. The presence of the sex-determining region Y (SRY) gene did not determine male differentiation, which meant in the present case that the predominance of the X cell line in the gonadal tissue was probably due to the determining factor for female sexual differentiation.Associação Paulista de Medicina - APM2008-09-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802008000500012Sao Paulo Medical Journal v.126 n.5 2008reponame:São Paulo medical journal (Online)instname:Associação Paulista de Medicinainstacron:APM10.1590/S1516-31802008000500012info:eu-repo/semantics/openAccessSoares,HenriqueMaia,AnaCampos,MiguelDória,SofiaLopes,José ManuelFontoura,Manueleng2009-02-26T00:00:00Zoai:scielo:S1516-31802008000500012Revistahttp://www.scielo.br/spmjhttps://old.scielo.br/oai/scielo-oai.phprevistas@apm.org.br1806-94601516-3180opendoar:2009-02-26T00:00São Paulo medical journal (Online) - Associação Paulista de Medicinafalse |
dc.title.none.fl_str_mv |
Clinicopathological features of 45,X/46,Xidic(Y) mosaicism and therapeutic implications: case report |
title |
Clinicopathological features of 45,X/46,Xidic(Y) mosaicism and therapeutic implications: case report |
spellingShingle |
Clinicopathological features of 45,X/46,Xidic(Y) mosaicism and therapeutic implications: case report Soares,Henrique Mosaicism In situ hybridization fluorescence Gonadoblastoma Turner syndrome Nevus |
title_short |
Clinicopathological features of 45,X/46,Xidic(Y) mosaicism and therapeutic implications: case report |
title_full |
Clinicopathological features of 45,X/46,Xidic(Y) mosaicism and therapeutic implications: case report |
title_fullStr |
Clinicopathological features of 45,X/46,Xidic(Y) mosaicism and therapeutic implications: case report |
title_full_unstemmed |
Clinicopathological features of 45,X/46,Xidic(Y) mosaicism and therapeutic implications: case report |
title_sort |
Clinicopathological features of 45,X/46,Xidic(Y) mosaicism and therapeutic implications: case report |
author |
Soares,Henrique |
author_facet |
Soares,Henrique Maia,Ana Campos,Miguel Dória,Sofia Lopes,José Manuel Fontoura,Manuel |
author_role |
author |
author2 |
Maia,Ana Campos,Miguel Dória,Sofia Lopes,José Manuel Fontoura,Manuel |
author2_role |
author author author author author |
dc.contributor.author.fl_str_mv |
Soares,Henrique Maia,Ana Campos,Miguel Dória,Sofia Lopes,José Manuel Fontoura,Manuel |
dc.subject.por.fl_str_mv |
Mosaicism In situ hybridization fluorescence Gonadoblastoma Turner syndrome Nevus |
topic |
Mosaicism In situ hybridization fluorescence Gonadoblastoma Turner syndrome Nevus |
description |
CONTEXT: 45,X/46,Xidic(Y) mosaicism demands careful and thorough study because of both its variable clinical features and its potential complications. CASE REPORT: The present case relates to a three-year-old girl with the mosaic karyotype 46,X,idic(Y)(q11.2)[23]/45,X[6]. She had no signs of virilization or Turner's syndrome phenotype, but she was referred to our hospital because she presented reduced growth rate, abnormal facies and a melanotic nevus. After examination, she underwent prophylactic gonadectomy because of the risk of gonadoblastoma. Cytogenetic analysis on the streak gonads and blood showed significant differences in the 45,X cell line between these two tissues. The presence of the sex-determining region Y (SRY) gene did not determine male differentiation, which meant in the present case that the predominance of the X cell line in the gonadal tissue was probably due to the determining factor for female sexual differentiation. |
publishDate |
2008 |
dc.date.none.fl_str_mv |
2008-09-01 |
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=S1516-31802008000500012 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802008000500012 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/S1516-31802008000500012 |
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 |
Associação Paulista de Medicina - APM |
publisher.none.fl_str_mv |
Associação Paulista de Medicina - APM |
dc.source.none.fl_str_mv |
Sao Paulo Medical Journal v.126 n.5 2008 reponame:São Paulo medical journal (Online) instname:Associação Paulista de Medicina instacron:APM |
instname_str |
Associação Paulista de Medicina |
instacron_str |
APM |
institution |
APM |
reponame_str |
São Paulo medical journal (Online) |
collection |
São Paulo medical journal (Online) |
repository.name.fl_str_mv |
São Paulo medical journal (Online) - Associação Paulista de Medicina |
repository.mail.fl_str_mv |
revistas@apm.org.br |
_version_ |
1754209262192558080 |