Question:

What is cytogenetic testing?

Answer:

Cytogenetic testing is used to study an individual’s chromosome makeup. The term karyotyping refers to the arrangement of nucleus chromosomes in order from the largest to the smallest to analyze their number and structure. Cytogenetic testing involves the determination of chromosome number and structure; variations in either can produce numerous abnormalities. With cytogenetic testing, the total chromosome count is determined first, followed by the sex chromosome complement and then by any abnormalities. A normal karyotype of chromosomes consists of a pattern of 22 pairs of autosomal chromosomes and a pair of sex chromosomes: XY for the male and XX for the female. A plus (+) or minus (-) sign indicates, respectively, a gain or loss of chromosomal material.

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