Compound phenotype in a girl with r(22), concomitant microdeletion 22q13.32-q13.33 and mosaic monosomy 22
Abstract 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 d...
Main Authors: | Anna A. Kashevarova, Elena O. Belyaeva, Aleksandr M. Nikonov, Olga V. Plotnikova, Nikolay A. Skryabin, Tatyana V. Nikitina, Stanislav A. Vasilyev, Yulia S. Yakovleva, Nadezda P. Babushkina, Ekaterina N. Tolmacheva, Mariya E. Lopatkina, Renata R. Savchenko, Lyudmila P. Nazarenko, Igor N. Lebedev |
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Format: | Article |
Language: | English |
Published: |
BMC
2018-04-01
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Series: | Molecular Cytogenetics |
Subjects: | |
Online Access: | http://link.springer.com/article/10.1186/s13039-018-0375-3 |
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