Peripheral Karyotyping is a laboratory procedure that allows your doctor to examine your set of chromosomes. “Karyotype” also refers to the actual collection of chromosomes being examined. Examining chromosomes through Peripheral karyotyping allows your doctor to determine whether there are any abnormalities or structural problems within the chromosomes. Chromosomes are in almost every cell of your body. They contain the genetic material inherited from your parents. They’re composed of DNA and determine the way every human develops.
High-resolution Peripheral Karyotyping(Single)
Repetitive SSONs, generally clustered together on one or several genomes or chromosomes, are frequently used to develop high-resolution karyotypes and identify chromosomes Single-copy SSONs are usually chromosome-specific and are thus used to track specific chromosomes or chromosomal fragments and identify homoeologous chromosomes in closely related species. High-resolution chromosome analysis requires the use of elongation methods to obtain a high percentage of prophase and prometaphase spreads.
Increased detection sensitivity appears to be the main benefit of high‐resolution CMA. Despite this, in this cohort, there was no significant benefit in terms of improving the detection of small pathogenic CNVs. A potential disadvantage is the high detection rate of CNVs of ‘unknown’ clinical significance. These findings emphasise the importance of establishing an evidence‐based policy for the interpretation and reporting of CNVs, and the need to provide appropriate pre‐ and post‐test counselling.