A new case of 17p13.3p13.1 microduplication resulted from unbalanced translocation: clinical and molecular cytogenetic characterization
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DOI: 10.1186/s13039-021-00562-1
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… read more here.
Keywords: new case; case 17p13; genomic imbalance; translocation ... See more keywords