Diagnostic Utility of Microarray Testing in Chromosome Five Associated Disorders

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.

Beþinci Kromozom Ýliþkili Hastalýklarda Mikrodizin Analizinin Tanýsal Önemi

GÝRÝÞ ve AMAÇ: Kromozomal boyutta 50 bazdan daha büyük alaný kaplayan deðiþikliklere kopya sayýsý deðiþikliði (copy number variation – CNV) adý verilmektedir. Beþinci kromozom, üzerinde yerleþik genlerin fonksiyonu itibariyle farklý fenotiplerin geliþimine açýk ve diðer kromozomal lokasyonlara nazaran patojenik deðiþikliklerin daha sýk görüldüðü bir alandýr. Makalemizde, bu antiteyi desteklemek amacýyla mikrodizin analizlerinde tespit edilen, beþinci kromozomda yerleþik patojenik CNV’lerin sebep olduðu bir Sotos sendromu, bir CCT5 geni iliþkili nöropati ve üç 5q14 mikrodelesyonu bildirilmiþtir.
YÖNTEM ve GEREÇLER: Mikrodizin çalýþmalarý, Affimetrix® Cytoscan Optima çipleri ile yapýlýp, hasta verileri Chromosome Analysis Suite (ChAS) 3.1 Thermo Fisher Scientific® programý yardýmýyla analiz edildi.
BULGULAR: Vaka 1, vaka 2 ve vaka 3’de, delesyonlu alanlarýn kapsamý deðiþken olmakla birlikte, 5q14.3 mikrodelesyonu tespit edilmiþtir. Vaka 4, NSD1 gen delesyonu ile Sotos sendromu tanýsý almýþtýr (arr[GHCR38]5q35.2q35.3(176144147_177716919)x1). Vaka 5’in temel bulgusu kas güçsüzlüðü ve bununla iliþkili olarak EMG’de nöropati ile uyumlu denervasyon bulgularý olup, mikrodizin analizinde CCT5 geninin delesyonu klinikle iliþkilendirilmiþtir (arr[GRCh38]5p15.2(10236581_10253807)x1) (Tablo 1).
TARTIÞMA ve SONUÇ: Mikrodizin analizinin bu algoritmadaki yeri ve limitasyonlarý; sunulan vakalardaki literatürdeki yeni bulgularla beraber tartýþýlmýþtýr. Özellikle beþinci kromozomda yerleþik genlerde görülen CNV’lerin OMIM fenotipleri ile yoðun iliþkisi bu bölgeye ait hastalýklarýn tanýsýnda mikrodizin analizinin önceliðini ön plana çýkarmýþtýr.