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Genetic Disorders

Genetic Disorders

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Genetic Disorders

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  1. Genetic Disorders A Collage of Multiple Syndromes

  2. Syndromes Covered: Chromosomal Disorders • Down syndrome (Trisomy 21) • Edward’s syndrome (Trisomy 18) • Patau’s syndrome (Trisomy 13) • Klinefelter’s syndrome (XXY) • Turner syndrome (XO) • Super female syndrome (XXX) • Super male syndrome (XYY) • Cri du Chat (deletion on #5) • Fragile X (duplication on X)

  3. Single Gene Disorders • Sickle Cell Anemia • Cystic Fibrosis • Huntington’s Disease • Autism (???)

  4. …And, Sex Linked Traits • Color Blindness • Hemophilia

  5. Chromosomal Disorders …are usually caused by an error in cell division Karyotype!

  6. Down Syndrome=Trisomy 21 A young boy with Down syndrome •

  7. This is what a karyotype of a girl with downs syndrome would look like

  8. Some physical characteristics of individuals with DS…

  9. Edward’s Syndrome=Trisomy 18 Dakota, a young boy with Edward’s syndrome

  10. Mental retardation Undescended testicles in males Prominent back portion of the head Small head (microcephaly) Low-set, malformed ears Abnormally small jaw (micrognathia) Small mouth Cleft lip/Cleft palate Upturned nose Narrow eyelid folds (palpebral fissures) Growth deficiency Feeding difficulties Breathing difficulties Developmental delays Characteristics of Edward’s Syndrome

  11. A karyotype of a male with Edward’s syndrome

  12. Patau’s Syndrome=Trisomy 13 Meet Nicholas Wright the very proud son of Mark and Jayne Wright of Hudson, Illinois USA Nicholas was born with Trisomy 13.

  13. Characteristics of Patau’s Syndrome • Most embryos with trisomy 13 do not survive gestation and are spontaneously aborted. • Of those surviving to term gestation, approximately 82-85% do not survive past 1 month of age, and 85-90% do not survive past 1 year of age. • Central Nervous System malformations (no forebrain development) • long term neurological disability, feeding difficulty, and frequent pneumonia and other respiratory infections. • *There have been 5 cases reported in the medical history of patients living beyond 10 years of age


  15. Klinefelter’s Syndrome (XXY) William John Durfee, a patient with Klinefelter’s syndrome

  16. Male w/Klinefelter’s Female w/ Turner


  18. Turner Syndrome (XO) Karen, a patient with Turner Syndrome



  21. Super Female Syndrome (Trisomy X) Females with Trisomy X are healthy and cannot be distinguished from (XX) females excepts by karyotype (shown) •

  22. Super Male Syndrome (XYY Syndrome) This syndrome is not well characterized although males that have XYY tend to be slightly taller than average Studies have shown that a large number of men imprisoned are XYY

  23. Other Genetic Disorders… Cri du Chat (Deletion on part of #5) • Characteristics: • “Cry of the cat," referring to the distinctive cry of children with this disorder • Abnormal larynx development, which becomes normal within a few weeks of birth • Low birth weight • Respiratory problems • Sometimes shortened lifespan…but usually normal life expectancy

  24. Most common form of mental retardation Hyperactivity Short attention span Negative response to touch Hand-flapping Hand-biting Poor eye contact Repetition of words/phrases Double jointed Large or prominent ears Large testicles Fragile X Syndrome: Duplication of a piece of the X Chromosome

  25. Single Gene Traits Sickle Cell Anemia • Inherited blood disorder (recessive) • Mostly affects people of African ancestory • 1 in 12 African Americans have it • Affects hemoglobin (which carries oxygen in blood) and makes Red Blood Cells sticky • Interesting correlation between sickle cell and increased resistance to malaria

  26. Cystic Fibrosis • Inherited chronic disease that affects lungs and digestive system • Defective gene causes the body to produce unusually thick, sticky mucus

  27. Huntington’s Disease • Hereditary brain disorder that diminishes ability to walk, think, talk, and reason • Onset usually between the ages of 30-45

  28. Tay-Sachs Disease • Lipid accumulation in brain cells; mental deficiency; blindness; death in early childhood

  29. Autism • 3 distinctive behaviors that characterize autism:    -difficulties with social interaction -problems with verbal and nonverbal communication -repetitive behaviors or narrow, obsessive interests.  • These behaviors can range in impact from mild to disabling

  30. Sex-Linked Traits…linked to the sex chromosomes • Color Blindness • Hemophilia • Both are usually found in males only- why??

  31. Half shaded=carrier; If III-2 and III-3 have a child (I know...weird), what are the odds of it getting the “disease”?