New report of two patients with mosaic trisomy 9 presenting unusual features and longer survival
Autor(a) principal: | |
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Data de Publicação: | 2011 |
Outros Autores: | , , , |
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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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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1754209263071264768 |