Case report of a pseudo‐isodicentric chromosome 9 resulting in mosaic trisomy 9

Autor:	Pamela Trapane, Sarah M. Beaudry, Jaime M. W. Nagy, Benjamin W. Darbro, Oleg A Shchelochkov
Jazyk:	angličtina
Rok vydání:	2021
Předmět:	Medicine (General) Aneuploidy Mosaic (geodemography) Case Report Variable presentation Case Reports 030204 cardiovascular system & hematology long‐term survival Trisomy 9 03 medical and health sciences 0302 clinical medicine Isodicentric Chromosome R5-920 pseudo‐isodicentric chromosome 9 Chromosome analysis Long term survival medicine Genetics business.industry mosaic trisomy 9 General Medicine medicine.disease 030220 oncology & carcinogenesis Medicine business
Zdroj:	Clinical Case Reports Clinical Case Reports, Vol 9, Iss 4, Pp 2340-2344 (2021)
ISSN:	2050-0904
Popis:	Due to the variable presentation of mosaic chromosomal abnormalities, cases such as this are needed to define the phenotypic spectrum. It also highlights the importance of chromosome analysis to identify structural abnormalities that result in aneuploidy.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab55ea4e81ede440c178fab0bb6e92c0 http://europepmc.org/articles/PMC8077311 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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