New report of two patients with mosaic trisomy 9 presenting unusual features and longer survival
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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Associação Paulista de Medicina - APM
2011
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oai:scielo:S1516-318020110006000102012-01-11New report of two patients with mosaic trisomy 9 presenting unusual features and longer survivalZen,Paulo Ricardo GazzolaRosa,Rafael Fabiano MachadoRosa,Rosana Cardoso ManiqueGraziadio,CarlaPaskulin,Giorgio Adriano Mosaicism Chromosomes, human, pair 9 Chromosome aberrations Goldenhar syndrome Survivorship (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 9info:eu-repo/semantics/openAccessAssociação Paulista de Medicina - APMSao Paulo Medical Journal v.129 n.6 20112011-12-01info:eu-repo/semantics/reporttext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802011000600010en10.1590/S1516-31802011000600010 |
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Zen,Paulo Ricardo Gazzola Rosa,Rafael Fabiano Machado Rosa,Rosana Cardoso Manique Graziadio,Carla Paskulin,Giorgio Adriano |
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Zen,Paulo Ricardo Gazzola Rosa,Rafael Fabiano Machado Rosa,Rosana Cardoso Manique Graziadio,Carla Paskulin,Giorgio Adriano New report of two patients with mosaic trisomy 9 presenting unusual features and longer survival |
author_facet |
Zen,Paulo Ricardo Gazzola Rosa,Rafael Fabiano Machado Rosa,Rosana Cardoso Manique Graziadio,Carla Paskulin,Giorgio Adriano |
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Zen,Paulo Ricardo Gazzola |
title |
New report of two patients with mosaic trisomy 9 presenting unusual features and longer survival |
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 |
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 |
publisher |
Associação Paulista de Medicina - APM |
publishDate |
2011 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1516-31802011000600010 |
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