Abnormal Karyotypes

In my first book (Your Easy Way To Chromosomes), the main topic was about the human chromosomes, their structures, abnormalities, syndromes, and chromosome analysis. In this book I focused on abnormal karyotypes and how chromosomal abnormalities happen.


A karyotype is a picture of a person's chromosomes from body cells (blood, hair, or any other tissue), photographing them through a microscope and arranging them in pairs, ordered by size and position of centromere for chromosomes of the same size.


Karyotype test (alternative names are Chromosome Analysis, Chromosomal Analysis) plays a role in: diagnosis genetic diseases which are related to chromosomal abnormalities, diagnosis some birth defects, and provides clinical utility in the diagnosis and treatment of hematologic malignancies. On the other hand some genetic abnormalities cannot be detected by karyotype analysis such as microdeletions.


Karyotype helps clinical cytogeneticist to identify abnormalities by:


Counting the number of chromosomes and looking for extra chromosome such as in trisomy 21 or missing chromosome in a karyotype such as in Turner syndrome.


Looking for changes in chromosome structure such as chromosomal deletions, duplications, translocations, insertions, inversions and other chromosomal abnormalities.




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Sana Nimer


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