Abstract

INTRODUCTION

Chromosomal rearrangements that cover more than 50 bases are called copy number variation (CNV). The fifth chromosome is a position, open to the development of different phenotypes in terms of the function of the genes located on it, and pathogenic changes are more common than other chromosomal locations. To support this entity, we reported a Sotos syndrome, a CCT5 gene-related neuropathy, and three 5q14 microdeletions, detected by microarray analysis, caused by pathogenic CNVs located on the fifth chromosome.

METHODS

Microarray analysis were performed with Affimetrix® Cytoscan Optima chips and patient data were analyzed with the help of Chromosome Analysis Suite (ChAS) 3.1 Thermo Fisher Scientific® program.

RESULTS

Although the scope of deletion areas in case 1, case 2 and case 3 is variable, 5q14.3 microdeletion was detected. Case 4 was diagnosed with Sotos syndrome by deletion involving the NSD1 gene (arr [GHCR38] 5q35.2q35.3 (176144147_177716919) x1). The main finding of Case 5 is muscle weakness and denervation findings in EMG compatible with neuropathy, and in the microarray analysis, deletion of the CCT5 gene has been clinically associated (arr [GRCh38] 5p15.2 (10236581_10253807) x1) (Table 1).

DISCUSSION AND CONCLUSION

The importance and limitations of microarray analysis in this algorithm have been discussed along with new findings in the literature in the presented cases. CNVs, especially in the genes located in the fifth chromosome, have a strong relationship with OMIM phenotypes, highlighting the priority of microarray analysis in the diagnosis of diseases belonging to this region.