Mosaic trisomy 22 in a 14-year-old adolescent: A case report

Detalhes bibliográficos
Autor(a) principal: Cunha, Sara Monteiro
Data de Publicação: 2021
Outros Autores: Meireles, Daniel, Figueiredo, Catarina, Soares, Ana Rita, Freitas, Joana, Oliveira, Maria João, Borges, Teresa
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: https://ojs.pjp.spp.pt/article/view/20175
Resumo: Introduction: Complete trisomy 22 is the second most common chromosomal aneuploidy found in spontaneous abortions. However, mosaic trisomy 22 has a mild phenotype, being compatible with life. The varied manifestations of trisomy depend on the distribution of the affected cells, making this diagnosis difficult. Case report: A 14-year-old adolescent was observed for primary amenorrhea. On physical examination, mild dysmorphisms were noted and growth velocity was below 25th percentile. An endocrine assessment revealed a hypergonadotropic hypogonadism, hand radiograph showed delayed bone age and pelvic ultrasound showed infantile uterus and absent ovaries. She had a normal female blood karyotype. Blaschko lines were noticed on the upper extremities. Skin karyotype confirmed mosaic trisomy 22. Discussion/Conclusion: Signs and symptoms in mosaic trisomy 22 can be unspecific. Dysmorphisms can be subtle and short stature is a common finding in other disorders. However, Blaschko lines, especially in association with postnatal growth failure, dysmorphias, and hemidystrophy should prompt this diagnosis.
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spelling Mosaic trisomy 22 in a 14-year-old adolescent: A case reportTrissomia 22 em mosaico em adolescente de 14 anos: caso clínicoCase reportsIntroduction: Complete trisomy 22 is the second most common chromosomal aneuploidy found in spontaneous abortions. However, mosaic trisomy 22 has a mild phenotype, being compatible with life. The varied manifestations of trisomy depend on the distribution of the affected cells, making this diagnosis difficult. Case report: A 14-year-old adolescent was observed for primary amenorrhea. On physical examination, mild dysmorphisms were noted and growth velocity was below 25th percentile. An endocrine assessment revealed a hypergonadotropic hypogonadism, hand radiograph showed delayed bone age and pelvic ultrasound showed infantile uterus and absent ovaries. She had a normal female blood karyotype. Blaschko lines were noticed on the upper extremities. Skin karyotype confirmed mosaic trisomy 22. Discussion/Conclusion: Signs and symptoms in mosaic trisomy 22 can be unspecific. Dysmorphisms can be subtle and short stature is a common finding in other disorders. However, Blaschko lines, especially in association with postnatal growth failure, dysmorphias, and hemidystrophy should prompt this diagnosis.Introdução: A trissomia 22 é a segunda aneuploidia mais comum encontrada nos abortamentos espontâneos. Porém, a trissomia 22 em mosaico apresenta um fenótipo ligeiro, sendo compatível com a vida. As variadas manifestações da trissomia dependem da distribuição das células afetadas, dificultando o seu diagnóstico. Caso clínico: Adolescente de 14 anos observada por amenorreia primária. Ao exame físico, apresentava dismorfias e uma velocidade de crescimento inferior ao percentil 25. O estudo efetuado revelou hipogonadismo hipergonadotrófico; atraso na idade óssea; útero infantil e ausência dos ovários. Nos membros superiores apresentava linhas de Blaschko. O cariótipo de sangue periférico foi normal. O cariótipo de pele revelou trissomia 22 em mosaico. Discussão/Conclusão: Os sinais e sintomas da trissomia em mosaico são inespecíficos. As dismorfias podem ser subtis e a baixa estatura é um achado comum noutras patologias. No entanto, a presença de linhas de Blaschko, especialmente associada a baixa estatura, dismorfias e hemidistrofia, devem sugerir este diagnóstico.Sociedade Portuguesa de Pediatria2021-04-15info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttps://ojs.pjp.spp.pt/article/view/20175eng2184-44532184-3333Cunha, Sara MonteiroMeireles, DanielFigueiredo, CatarinaSoares, Ana RitaFreitas, JoanaOliveira, Maria JoãoBorges, Teresainfo:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-08-03T02:58:09Zoai:ojs.revistas.rcaap.pt:article/20175Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:25:35.088593Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv Mosaic trisomy 22 in a 14-year-old adolescent: A case report
Trissomia 22 em mosaico em adolescente de 14 anos: caso clínico
title Mosaic trisomy 22 in a 14-year-old adolescent: A case report
spellingShingle Mosaic trisomy 22 in a 14-year-old adolescent: A case report
Cunha, Sara Monteiro
Case reports
title_short Mosaic trisomy 22 in a 14-year-old adolescent: A case report
title_full Mosaic trisomy 22 in a 14-year-old adolescent: A case report
title_fullStr Mosaic trisomy 22 in a 14-year-old adolescent: A case report
title_full_unstemmed Mosaic trisomy 22 in a 14-year-old adolescent: A case report
title_sort Mosaic trisomy 22 in a 14-year-old adolescent: A case report
author Cunha, Sara Monteiro
author_facet Cunha, Sara Monteiro
Meireles, Daniel
Figueiredo, Catarina
Soares, Ana Rita
Freitas, Joana
Oliveira, Maria João
Borges, Teresa
author_role author
author2 Meireles, Daniel
Figueiredo, Catarina
Soares, Ana Rita
Freitas, Joana
Oliveira, Maria João
Borges, Teresa
author2_role author
author
author
author
author
author
dc.contributor.author.fl_str_mv Cunha, Sara Monteiro
Meireles, Daniel
Figueiredo, Catarina
Soares, Ana Rita
Freitas, Joana
Oliveira, Maria João
Borges, Teresa
dc.subject.por.fl_str_mv Case reports
topic Case reports
description Introduction: Complete trisomy 22 is the second most common chromosomal aneuploidy found in spontaneous abortions. However, mosaic trisomy 22 has a mild phenotype, being compatible with life. The varied manifestations of trisomy depend on the distribution of the affected cells, making this diagnosis difficult. Case report: A 14-year-old adolescent was observed for primary amenorrhea. On physical examination, mild dysmorphisms were noted and growth velocity was below 25th percentile. An endocrine assessment revealed a hypergonadotropic hypogonadism, hand radiograph showed delayed bone age and pelvic ultrasound showed infantile uterus and absent ovaries. She had a normal female blood karyotype. Blaschko lines were noticed on the upper extremities. Skin karyotype confirmed mosaic trisomy 22. Discussion/Conclusion: Signs and symptoms in mosaic trisomy 22 can be unspecific. Dysmorphisms can be subtle and short stature is a common finding in other disorders. However, Blaschko lines, especially in association with postnatal growth failure, dysmorphias, and hemidystrophy should prompt this diagnosis.
publishDate 2021
dc.date.none.fl_str_mv 2021-04-15
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://ojs.pjp.spp.pt/article/view/20175
url https://ojs.pjp.spp.pt/article/view/20175
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv 2184-4453
2184-3333
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Sociedade Portuguesa de Pediatria
publisher.none.fl_str_mv Sociedade Portuguesa de Pediatria
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
repository.mail.fl_str_mv
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