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  1. 1. Chromosomal aberrations Submitted by: Claudette Dabu Lester Santos AAPD2F
  2. 2. Chromosomal aberration <ul><li>Any change in the normal structure or number of chromosomes; often results in physical or mental abnormality. </li></ul>
  3. 3. Euploidy <ul><li>Normal complement of chromosomes, which in humans, is 2n where n is the haploid number </li></ul>
  4. 4. Chromosomal disorders
  5. 5. Aneuploidy <ul><li>It is an abnormal number of chromosomes. </li></ul><ul><li>An extra or missing chromosome is a common cause of genetic disorder </li></ul><ul><li>It occurs during cell division when the chromosome do not separate properly between the two cells </li></ul>
  6. 6. Kinds of anueploidy <ul><li>MONOSOMY- missing one chromosome from a pair (2n-1) </li></ul><ul><li>TRISOMY- presence of three copies of a chromosome (2n+1) </li></ul><ul><li>TETRASOMY- presence of four copies of a chromosome (2n+2) </li></ul><ul><li>PENTASOMY- presence of additional three chromosomes of one type in an otherwise diploid cell (2n+3) </li></ul>
  7. 7. klinefelter
  8. 8. <ul><li>It is a chromosomal condition that affects male sexual development. Males with this condition typically have small testes that do not produce enough testosterone, which is the hormone that directs male sexual development before birth and during puberty. </li></ul><ul><li>Most males with this syndrome have one extra copy of the X chromosome in each cell. </li></ul>
  9. 9. <ul><li>In addition to affecting male sexual development, variants of Klinefelter syndrome are associated with intellectual disability, distinctive facial features, skeletal abnormalities, poor coordination, and severe problems with speech. </li></ul>
  10. 10. Down syndrome
  11. 11. <ul><li>It is also called Trisomy 21, it is a condition in which extra genetic material delays in the way a child develops, both mentally and physically. </li></ul><ul><li>Common physical signs include: </li></ul><ul><ul><li>Decreased muscle tone at birth </li></ul></ul><ul><ul><li>Flattened nose </li></ul></ul><ul><ul><li>Separate joints between the bones of the skull </li></ul></ul><ul><ul><li>Small ears, mouth </li></ul></ul><ul><ul><li>Upward slanting eyes; wide short hands with short fingers </li></ul></ul>
  12. 12. Turner syndrome
  13. 13. <ul><li>It is a genetic disorder that affects a girl’s development. The cause is a missing or incomplete X chromosome. Girls who have it are short, and their ovaries don’t work properly. Most are infertile. They are at risk for health difficulties such as high blood pressure, kidney problems, diabetes, cataracts, osteoporosis, and thyroid problems. </li></ul>
  14. 14. <ul><li>Other physical features: </li></ul><ul><ul><li>Short “webbed” neck with folds of skin from tops of shoulders to sides of neck </li></ul></ul><ul><ul><li>Low hairline in the back </li></ul></ul><ul><ul><li>Low set ears </li></ul></ul><ul><ul><li>Swollen hands and feet </li></ul></ul>
  15. 15. Patau syndrome
  16. 16. <ul><li>It is also called Trisomy 13 </li></ul><ul><li>The extra copy of chromosome 13 in Patau syndrome causes severe neurological and heart defects which make it difficult for infants to survive. </li></ul>
  17. 17. <ul><li>Physical characteristics: </li></ul><ul><ul><li>Extra fingers or toes (polydactyl) </li></ul></ul><ul><ul><li>Deformed feet (Rocker-bottom feet) </li></ul></ul><ul><ul><li>Small head (microcephaly) </li></ul></ul><ul><ul><li>Failure of the brain to divide into halves during gestation </li></ul></ul><ul><ul><li>Small eyes </li></ul></ul><ul><ul><li>Absent or malformed nose </li></ul></ul><ul><ul><li>Cleft lip/ cleft palate </li></ul></ul><ul><ul><li>Heart defects </li></ul></ul><ul><ul><li>Kidney defects </li></ul></ul>
  18. 18. Cri-du-chat syndrome
  19. 19. <ul><li>It is a chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition often have a high-pitched cry that sounds like that of a cat. </li></ul><ul><li>The disorder is characterized by intellectual disability and delayed development, small head, low birth weight, weak muscle tone in infancy, widely set eyes, low set ears, small jaw, rounded face. </li></ul>
  20. 20. Edwards syndrome
  21. 21. <ul><li>Also called Trisomy 18 </li></ul><ul><li>It is a chromosomal condition associated with sever intellectual disability and abnormalities in may parts of the body. </li></ul><ul><li>Often have a low birth weight, small abnormally shaped head, small jaw and mouth, clenched fists with overlapping fingers, heart defects, and abnormalities of other organs. </li></ul>
  22. 22. Cat eye syndrome
  23. 23. <ul><li>A rare condition caused by the p arm and a small section of the q arm of chromosome 21 being present three or four times instead of the usual two times. </li></ul><ul><li>The “Cat Eye” syndrome was coined because of the particular appearance of the vertical colombas in the eyes of some patients. </li></ul>