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 features of the patient are also discussed. The advisability of using the combination of CMA and FISH analysis is shown. Copy number gains detected by clinical CMA should be confirmed using FISH analysis in order to determine the physical location of the duplicated segment. Parental follow-up studies is an important step to determine the origin of genomic imbalance. This approach not only allows a most comprehensive characterization of an identified chromosomal/genomic imbalance but also provision of an adequate medical and genetic counseling for a family taking into account a balanced chromosomal rearrangement.

Research Article Characterization of a complex chromosomal rearrangement in a girl with PURA syndrome

“…The application of highresolution molecular cytogenetic methods, particularly FISH and CMA, are becoming indispensable to detect cryptic imbalances inside or outside of the breakpoint regions. Moreover, Markova et al (2021) concluded that CMA allowed identifying the unbalanced fragment responsible for occurrence of clinical features in the patient. However, it is impossible to determine a structure of derivative chromosomes using the array data alone.…”