Molecular characterization and evaluation of complex rearrangements in a case of ring chromosome 15
Abstract Background Ring chromosome 15 is a rare genetic entity. Only a few cases have been reported with characterization using molecular techniques. The clinical presentation is quite variable, as a result of differences in the breakpoints, haploinsufficiency of genes involved in deleted segment/s...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2017-10-01
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| Series: | Molecular Cytogenetics |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13039-017-0339-z |