New report of two patients with mosaic trisomy 9 presenting unusual features and longer survival

Detalhes bibliográficos
Autor(a) principal: Zen,Paulo Ricardo Gazzola
Data de Publicação: 2011
Outros Autores: Rosa,Rafael Fabiano Machado, Rosa,Rosana Cardoso Manique, Graziadio,Carla, Paskulin,Giorgio Adriano
Tipo de documento: Relatório
Idioma: eng
Título da fonte: São Paulo medical journal (Online)
Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802011000600010
Resumo: CONTEXT: Mosaic trisomy 9 is considered to be a rare chromosomal abnormality with limited survival. Our objective was to report on two patients with mosaic trisomy 9 presenting unusual findings and prolonged survival. CASE REPORTS: The first patient was a boy aged six years and five months presenting weight of 14.5 kg (< P3), height of 112 cm (P10), head circumference of 49 cm (P2), prominent forehead, triangular and asymmetric face, thin lips, right microtia with overfolded helix, small hands, micropenis (< P10), small testes and hallux valgus. His lymphocyte karyotype was mos 47,XY,+9 [4 ]/46,XY [50 ]. Additional cytogenetic assessment of the skin showed normal results. The second patient was a two-year-old girl who was initially assessed at five months of age, when she presented weight of 5.3 kg (< P3), height of 61.5 cm (P2-P10), head circumference of 40.5 cm (P25), sparse hair, micrognathia, right ear with overfolded helix and preauricular pit, triphalangeal thumbs and sacral dimple. She also had a history of congenital heart disease, hearing loss, hypotonia, delayed neuropsychomotor development and swallowing disorder. Her lymphocyte karyotype was mos 47,XX,+9 [3 ]/46,XX [69 ]. Both patients had unusual clinical findings (the first, hemifacial hypoplasia associated with microtia, with a phenotype of oculo-auriculo-vertebral spectrum, and the second, triphalangeal thumbs and hearing loss) and survival greater than what is usually described in the literature (< 1 year). Further reports will be critical for delineating the clinical features and determining the evolution of patients with mosaic trisomy 9
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spelling New report of two patients with mosaic trisomy 9 presenting unusual features and longer survivalMosaicismChromosomes, human, pair 9Chromosome aberrationsGoldenhar syndromeSurvivorship (Public health)CONTEXT: Mosaic trisomy 9 is considered to be a rare chromosomal abnormality with limited survival. Our objective was to report on two patients with mosaic trisomy 9 presenting unusual findings and prolonged survival. CASE REPORTS: The first patient was a boy aged six years and five months presenting weight of 14.5 kg (< P3), height of 112 cm (P10), head circumference of 49 cm (P2), prominent forehead, triangular and asymmetric face, thin lips, right microtia with overfolded helix, small hands, micropenis (< P10), small testes and hallux valgus. His lymphocyte karyotype was mos 47,XY,+9 [4 ]/46,XY [50 ]. Additional cytogenetic assessment of the skin showed normal results. The second patient was a two-year-old girl who was initially assessed at five months of age, when she presented weight of 5.3 kg (< P3), height of 61.5 cm (P2-P10), head circumference of 40.5 cm (P25), sparse hair, micrognathia, right ear with overfolded helix and preauricular pit, triphalangeal thumbs and sacral dimple. She also had a history of congenital heart disease, hearing loss, hypotonia, delayed neuropsychomotor development and swallowing disorder. Her lymphocyte karyotype was mos 47,XX,+9 [3 ]/46,XX [69 ]. Both patients had unusual clinical findings (the first, hemifacial hypoplasia associated with microtia, with a phenotype of oculo-auriculo-vertebral spectrum, and the second, triphalangeal thumbs and hearing loss) and survival greater than what is usually described in the literature (< 1 year). Further reports will be critical for delineating the clinical features and determining the evolution of patients with mosaic trisomy 9Associação Paulista de Medicina - APM2011-12-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802011000600010Sao Paulo Medical Journal v.129 n.6 2011reponame:São Paulo medical journal (Online)instname:Associação Paulista de Medicinainstacron:APM10.1590/S1516-31802011000600010info:eu-repo/semantics/openAccessZen,Paulo Ricardo GazzolaRosa,Rafael Fabiano MachadoRosa,Rosana Cardoso ManiqueGraziadio,CarlaPaskulin,Giorgio Adrianoeng2012-01-11T00:00:00Zoai:scielo:S1516-31802011000600010Revistahttp://www.scielo.br/spmjhttps://old.scielo.br/oai/scielo-oai.phprevistas@apm.org.br1806-94601516-3180opendoar:2012-01-11T00:00São Paulo medical journal (Online) - Associação Paulista de Medicinafalse
dc.title.none.fl_str_mv New report of two patients with mosaic trisomy 9 presenting unusual features and longer survival
title New report of two patients with mosaic trisomy 9 presenting unusual features and longer survival
spellingShingle New report of two patients with mosaic trisomy 9 presenting unusual features and longer survival
Zen,Paulo Ricardo Gazzola
Mosaicism
Chromosomes, human, pair 9
Chromosome aberrations
Goldenhar syndrome
Survivorship (Public health)
title_short New report of two patients with mosaic trisomy 9 presenting unusual features and longer survival
title_full New report of two patients with mosaic trisomy 9 presenting unusual features and longer survival
title_fullStr New report of two patients with mosaic trisomy 9 presenting unusual features and longer survival
title_full_unstemmed New report of two patients with mosaic trisomy 9 presenting unusual features and longer survival
title_sort New report of two patients with mosaic trisomy 9 presenting unusual features and longer survival
author Zen,Paulo Ricardo Gazzola
author_facet Zen,Paulo Ricardo Gazzola
Rosa,Rafael Fabiano Machado
Rosa,Rosana Cardoso Manique
Graziadio,Carla
Paskulin,Giorgio Adriano
author_role author
author2 Rosa,Rafael Fabiano Machado
Rosa,Rosana Cardoso Manique
Graziadio,Carla
Paskulin,Giorgio Adriano
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Zen,Paulo Ricardo Gazzola
Rosa,Rafael Fabiano Machado
Rosa,Rosana Cardoso Manique
Graziadio,Carla
Paskulin,Giorgio Adriano
dc.subject.por.fl_str_mv Mosaicism
Chromosomes, human, pair 9
Chromosome aberrations
Goldenhar syndrome
Survivorship (Public health)
topic Mosaicism
Chromosomes, human, pair 9
Chromosome aberrations
Goldenhar syndrome
Survivorship (Public health)
description CONTEXT: Mosaic trisomy 9 is considered to be a rare chromosomal abnormality with limited survival. Our objective was to report on two patients with mosaic trisomy 9 presenting unusual findings and prolonged survival. CASE REPORTS: The first patient was a boy aged six years and five months presenting weight of 14.5 kg (< P3), height of 112 cm (P10), head circumference of 49 cm (P2), prominent forehead, triangular and asymmetric face, thin lips, right microtia with overfolded helix, small hands, micropenis (< P10), small testes and hallux valgus. His lymphocyte karyotype was mos 47,XY,+9 [4 ]/46,XY [50 ]. Additional cytogenetic assessment of the skin showed normal results. The second patient was a two-year-old girl who was initially assessed at five months of age, when she presented weight of 5.3 kg (< P3), height of 61.5 cm (P2-P10), head circumference of 40.5 cm (P25), sparse hair, micrognathia, right ear with overfolded helix and preauricular pit, triphalangeal thumbs and sacral dimple. She also had a history of congenital heart disease, hearing loss, hypotonia, delayed neuropsychomotor development and swallowing disorder. Her lymphocyte karyotype was mos 47,XX,+9 [3 ]/46,XX [69 ]. Both patients had unusual clinical findings (the first, hemifacial hypoplasia associated with microtia, with a phenotype of oculo-auriculo-vertebral spectrum, and the second, triphalangeal thumbs and hearing loss) and survival greater than what is usually described in the literature (< 1 year). Further reports will be critical for delineating the clinical features and determining the evolution of patients with mosaic trisomy 9
publishDate 2011
dc.date.none.fl_str_mv 2011-12-01
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=S1516-31802011000600010
url http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802011000600010
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 10.1590/S1516-31802011000600010
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.129 n.6 2011
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
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