ABNORMAL KARYOTYPES

About the Book

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.

Writing a book related to your field shows your passion and commitment to your job.
Sana Nimer
sananimer1@gmail.com
sananimer1@hotmail.com

About the Author

I have been working as a laboratory technician for 33 years: 21 years as a biochemistry laboratory technician and 12 years as a genetics laboratory technician. I am greatful to have had the opportunity to gain experience through working with a team of consultants in cytogenetic and molecular science and with professional laboratory technicians. I have collected basic information to compose a handbook, focusing on the cytogenetic laboratory. I was able to carry out this task by: - My experience as a genetic laboratory technician specialist for 12 years; - Using resources from various genetic based textbooks and articles; - Using information gathered from attending various genetic related conferences. Throughout my employment as a genetics laboratory technician, I was constantly asked by fellow workers, friends, family, and physicians, to explain what my job entails. As a result, the handbook was composed with two categories of readers in mind: the chief audience being the cytogenetics laboratory workers, who in addition to possessing the technical skills for chromosomal analysis, should understand the theoretical basis of clinical cytogenetics and be aware of the practical implications of their work; the second group targeting people with limited background in genetics. With genetics being such a power topic, my goal is to make this handbook a valuable resource for all levels of students and professionals interested in genetics. This handbook serves as an excellent reference for genetic academicians and enthusiasts. It is also an easy introductory guide for those with limited knowledge in cytogenetics and chromosomes. It provides ample information on DNA and the human genome, syndromes, gene mutations, chromosome composition and location, the role chromosomes play in sex determination, chromosomal changes throughout evolution, chromosomal movements during mitosis and meiosis, and chromosomal abnormalities. Cytogenetic methods such as G-banding, C-banding, High Resolution, and Fragile-X as well as FISH method are discussed in the handbook. The handbook is unique in comparison to other genetic books because it includes abundant illustrations to reinforce the text material. I give thanks to my family for their unconditional love and support. Sana Nimer