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Chromosomal Disorder
- 1. CHROMOSOMAL DISORDERS Presented by G. Susila I yr. M.Sc., (N) SHNC Guided by Dr.(Mrs) Nalini Gopalakrishnan Ph.D., Principal SHNC
- 2. CHROMOSOMAL DISORDER Introduction Diseases due to dysfunction of hereditary material, like chromosomes and genes, are the oldest, most widespread and probably the most common burden some of all human affilictions. Birth defects about 80 percent of which are thought to be due to genetic defects, are amongst the leading causes of infant mortality and fetal loss. Several studies have shown that genetic disease has a severe impact on the newborn.
- 3. Down Syndrome (Trisomy 21) Down syndrome is the most common cause of mental retardation and malformation in a newborn. It occurs because of the presence of an extra 21st chromosomes. It was first described in 1866 by Dr.John. L.H. Down, an English Physician. Incidence Down syndrome occurs about once in every 800 births. It is estimated that 10,000 children are born with down syndrome each year in the India.
- 5. Mosaic Down Syndrome The original egg and sperm cells are completely normal. The problem occur sometime shortly after fertilization, during the phase where cells are dividing rapidly, one cell divides abnormally, creating a line cells with an extra chromosome 21. This form of genetic disorder is called as mosaic.
- 6. Karyotyping
- 7. Translocations Down Syndrome During cell division the number 21 st chromosome some how breaks. A piece of the 21st chromosome then becomes attached to another chromosome. Each cell still has 46 chromosomes but the extra piece of chromosome 21. Results Down syndrome
- 9. Mangolion Face Simian Crease
- 11. Flattened Nose and Face, Upward Slanting Eyes Increased space between 1 st and 2 nd toe Short Fifth Finger that curves inward
- 13. Epicanthic Folds
- 15. Turner Syndrome Turner syndrome is a genetic condition in which a female does not have the usual pair of two x chromosomes. It was first described in 1938 by Dr.Hentry turner, an endocrinologist.
- 16. Description Normal Females Turner Syndrome Females x x x
- 19. Wide and Webbed Neck Swollen Feet
- 20. Short Structure Shortened meta carpal Small Finger Nails
- 21. Shortened 4 th & 5 th Meta Carpal Loss of Hair
- 22. Thank You