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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Detalhes bibliográficos
Publicado no:Mol Cytogenet
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5923029/
https://ncbi.nlm.nih.gov/pubmed/29736186
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13039-018-0375-3
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