Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22

BACKGROUND: Ring chromosome instability may influence a patient’s phenotype and challenge its interpretation. RESULTS: Here, we report a 4-year-old girl with a compound phenotype. Cytogenetic analysis revealed her karyotype to be 46,XX,r(22). aCGH identified a 180 kb 22q13.32 duplication, a de novo...

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Detalles Bibliográficos
Autores principales: Kashevarova, Anna A., Belyaeva, Elena O., Nikonov, Aleksandr M., Plotnikova, Olga V., Skryabin, Nikolay A., Nikitina, Tatyana V., Vasilyev, Stanislav A., Yakovleva, Yulia S., Babushkina, Nadezda P., Tolmacheva, Ekaterina N., Lopatkina, Mariya E., Savchenko, Renata R., Nazarenko, Lyudmila P., Lebedev, Igor N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5923029/
https://www.ncbi.nlm.nih.gov/pubmed/29736186
http://dx.doi.org/10.1186/s13039-018-0375-3

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