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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...
Autores principales: | Kawamura, Rie, Inagaki, Hidehito, Yamada, Midori, Suzuki, Fumihiko, Naru, Yuki, Kurahashi, Hiroki |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2021
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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 |
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