Application of Array Comparative Genomic Hybridization in Chromosomal Aberrations

After the birth of the “cytogenetics” in 1956 and its application in medicine in 1959 as valuable tool for the diagnosis of congenital diseases caused by chromosomal abnormalities, its limitations persuades the investigators to discover and employ “banding” techniques. This method could overcome many pre-existing problems and limitations but was not diagnostic especially when tissue culture was not possible due to tissue necrosis or in microdeletions. Fortunately, Fluorescent In Situ Hybridization (FISH) could prevail over many of the aforementioned limitations but it could not evaluate necrosed tissues since it required a specific probe for each disease. Array Comparative Genomic Hybridization (aCGH) is a new technique which enables us to study both necrosed and viable tissues. Another advantage of this method is the ability to study the whole genome and assess any decrease or increase in the chromosome material. This technique is currently regarded as the best and most efficient. Since stillbirths and viable or necrosed curettage specimens comprise most of the referred specimens to Kariminejad & Najmabadi Pathology and Genetic Center and evaluation of the specimens with a special focus on chromosomal aberrations are required by clinicians, we have equipped our center with technical equipment and experienced cytogenetic technicians. In the end, two cases whose definite diagnoses were made using FISH and Array CGH are presented.