What the KARYOTYPE Results Mean ?


Some chromosomal disorders that may be detected by Karyotype include:

  1. Down syndrome (Trisomy 21), caused by an extra chromosome 21
  2.  
  3. Edwards syndrome (Trisomy 18), caused by an extra chromosome 18.
  4.  
  5. Patau syndrome (Trisomy 13), caused by an extra chromosome 13.
  6.  
  7. Klinefelter syndrome, caused by an extra X chromosome, the most common sex chromosome abnormality in males
  8.  
  9. Turner syndrome, caused by missing one X chromosome in females.
  10.  
  11. Chronic myelogenous leukemia (blood cancer), a classic 9:22 translocation that is diagnostic of the disease.

Different Type of Chromosome Abnormalities


 
TRISOMY This is the presence of an extra chromosome, a third instead of a pair. Diseases associated with Trisomies include Down syndrome (associated with a Trisomy of chromosome 21), Patau syndrome (Trisomy 13), Edward syndrome (Trisomy 18), and Klinefelter syndrome (a male with an extra X chromosome – XXY instead of XY) and other sex chromosome abnormalities due to extra copy of sex chromosomes.
MONOSOMY This is the absence of one of the chromosomes. A most common example of monosomy is Turner syndrome (a female with a single X chromosome – X instead of XX). Most other monosomies are not compatible with life may lead to spontaneous abortion
DELETIONS These are missing pieces of chromosomes and/or genetic material. Some may be small and difficult to be detected. It can represented as segment of chromosome with deletion in long or short arm of the chromosome.
DUPLICATIONS These are represent extra genetic material and may be present on any chromosome, such as the presence of two horizontal bands at a specific location instead of one.
TRANSLOCATIONS With translocations, pieces of chromosomes break off and reattach to another chromosome. If it is a one-to-one switch and all of the genetic material is present (but in the wrong place), it is said to be a balanced translocation. If it is not, then it is called an unbalanced translocation.
GENETIC REARRANGEMENT In this situation, genetic material is present on a chromosome but not in its usual location. A person could have both a rearrangement and a duplication or deletion. An almost infinite number of rearrangements are possible. Interpreting the effects of the changes can be challenging.

As a company we believe in philosophy of adoption of advanced genetics technologies with clinical annotation (medical knowledge) that can improve clinical outcomes for patients. This approach has already been proved beneficial for patient’s undergoing diagnosis.

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