A new case of 17p13.3p13.1 microduplication resulted from unbalanced translocation: clinical and molecular cytogenetic characterization
Abstract Copy number gain 17 p13.3p13.1 was detected by chromosomal microarray (CMA) in a girl with developmental/speech delay and facial dysmorphism. FISH studies made it possible to establish that the identified genomic imbalance is the unbalanced t(9;17) translocation of maternal origin. Clinical...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BMC
2021-08-01
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| Series: | Molecular Cytogenetics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13039-021-00562-1 |