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AAT Bioquest

What types of disorders can chromosome microarray analysis diagnose?

Posted August 16, 2023


Answer

Chromosome microarray analysis is utilized for genetic testing of individuals with intellectual disabilities, developmental delays, or multiple congenital anomalies. Monosomy means that a person is missing one chromosome in the pair, and instead of 46 chromosomes, they only have 45. An example of a disease in a person with monosomy is Turner syndrome, which is a genetic disorder that occurs in girls. A girl with TS has only one X chromosome in her 23rd pair, which is the sex chromosome. The missing sex chromosome error occurs either in the father’s sperm cell or mother’s egg cell when either of the cells are forming. Trisomy occurs when a person has 47 chromosomes instead of 46. Down syndrome, Patau syndrome, and Edward syndrome are the most common forms of trisomy. In Down syndrome, also known as Trisomy 21, the person has three copies of chromosome 21 instead of two copies. In Edward syndrome, also referred to as Trisomy 18, the person has three copies of chromosome 18 instead of two copies. Patau syndrome, also known as Trisomy 13, occurs when the person has three copies of chromosome 13 instead of two. Thus, these arrays assist doctors in diagnosing these types of disorders when they occur. 

Additional resources

Gene set analysis of SNP data: benefits, challenges, and future directions

Gene Expression Analysis & Genotyping