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A Turner syndrome case associated with dic(Y;22)

BACKGROUND: Constitutional telomeric associations are very rare events and the mechanism underlying their development is not well understood. CASE PRESENTATION: We here describe a female case of Turner syndrome with a 45,X,add(22)(p11.2)[25]/45,X[5]. We reconfirmed this karyotype by FISH analysis as...

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Detalles Bibliográficos
Autores principales: Kawamura, Rie, Inagaki, Hidehito, Yamada, Midori, Suzuki, Fumihiko, Naru, Yuki, Kurahashi, Hiroki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8264959/
https://www.ncbi.nlm.nih.gov/pubmed/34238329
http://dx.doi.org/10.1186/s13039-021-00556-z