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Chromosomal Disorders Webquest
There are many inherited disorders in the human population. This webquest covers some of these disorders.
Using the websites listed below, answer the following questions. You do not have to memorize the frequency at which
these traits occur; however, take a look at those numbers and think about how prevalent some of these traits are.
Use http://www.achondroplasia.co.uk/ to answer the following questions.
1. What is the common name of Achondroplasia?
Short limb dwarfism
2. How is Achondroplasia inherited?
It is autosomal dominant
3. What are some of the characteristics of individuals with Achondroplasia?
Short stature, prominent forehead, protruding jaw, flat/depressed areas between eyes, legs are bowed
Use the following website http://www.ygyh.org/cf/whatisit.htm to answer the questions below.
4. What are some of the major symptoms of cystic fibrosis?
Persistent diarrhea, smelly, greasy stool, frequent pneumonia, chronic coughing, salty skin and poor growth
5. In what ethnic group(s) is CF most common?
Caucasians and some Native Americans
6. How is CF inherited?
Recessive, 1 gene inherited from each parent
7. What type of screening is done for CF?
Simply sweat test can be used for diagnosis, carriers of the gene can be detected with DNA testing
8. What treatments are available to CF patients?
Enzyme supplements, lung problems are treated with chest percussions, drugs and antibiotics. Lung
transplant can extend life
Use https://www.nlm.nih.gov/medlineplus/ency/article/001593.htm to answer the following questions about Cri du Chat
9. How is Cri du Chat inherited?
Most cases are not inherited, it is caused by a random event in the forming of the reproductive cells or in early
fetal development. Small number of cases received defected chromosome 5 from a parent
10. What is the most prominent characteristic of individuals afflicted with Cri du Chat?
Cry that is high pitched and sounds like cat
11. What are some of the other characteristics associated with this disorder?
Downward slant eyes, low birth weight, slow growth, low set ears, intellectual disability, etc
12. What types of tests are performed to determine if an individual has Cri du Chat?
Physical exam by a doctor and genetic testing. Skull xrays can also be used
Use http://www.ygyh.org/dmd/whatisit.htm to answer the questions that follow about Duchenne Muscular Dystrophy.
13. How is DMD inherited?
Sex-linked disorder affecting only boys- inherited from the X chromosome from his mother
14. What are the symptoms of DMD?
Lost muscle throughout life-usually not noticed until about age 3 when the parent notices unusual walking
or difficulty talking
15. How is DMD diagnosed?
A CPK assay to detect muscle damage, DNA test, muscle biopsy
16. How is DMD treated?
Physical therapy to avoid tightening, braces and wheelchairs for mobility, spinal surgery and breathing aids
Use http://www.ygyh.org/fragx/whatisit.htm to answer the following questions.
17. Where does the name Fragile X Syndrome come from?
From the broken appearance of the X chromosome that’s inherited
18. What are the symptoms of this disorder? Of what is Fragile X said to be the most common cause?
Learning disabilities, mental impairment, short attention spans
19. What type of screening is done for Fragile X?
DNA testing
20. What treatments are available for people with Fragile X Syndrome?
Drug therapies, special education
Use the website, http://www.nlm.nih.gov/medlineplus/klinefelterssyndrome.html to answer questions about
Klinefelter’s syndrome.
21. How is Klinefelter’s inherited?
By inheriting an extra X chromosome
22. What are some of the symptoms of Klinefelter’s?
Infertility, smaller sex organs, less facial and body hair
23. How is screening for Klinefelter’s done?
Karyotype
24. What are some of the treatments available to males with Klinefelter’s?
Testosterone replacement, therapist
Use the website, http://www.ygyh.org/marfan/whatisit.htm to answer the following questions about Marfan Syndrome.
25. What are some of the characteristics and symptoms of Marfan Syndrome?
Weak connective tissues in the heart, skeletal system and eyes
26. What are some of the treatments available to those afflicted with Marfan Syndrome?
Medicine and surgery
27. What U.S. President is thought to have had Marfan Syndrome?
Abraham Lincoln
Use the website http://www.medhelp.org/lib/pku.htm to answer the following questions about Phenylketonuria (PKU).
28. What causes PKU?
Recessive
29. What is the mode of inheritance of PKU?
Autosomal recessive
30. What are some of the symptoms of PKU?
Vomiting, irritability, eczema rash
31. How are infants tested for PKU?
Newborn screening tests
32. How is PKU treated?
High protein foods, diet
Use the following website http://www.pwsausa.org/basic-facts/ to answer questions about Prader-Willi Syndrome
33. What are some of the characteristics/symptoms of Prader-Willi Syndrome?
Low muscle tone, small stature, cognitive and behavioral problems
34. What parent donates the defective chromosome that causes this disorder?
Father
35. Which chromosome is associated with this disorder?
15
36. What is wrong with that particular chromosome?
Fathers is deleted and left with only the mothers
Use http://www.nlm.nih.gov/medlineplus/ency/article/001660.htm and the yahoo site to answer the questions below
concerning Trisomy 13.
37. What is the other name for Trisomy 13?
Patau Syndrome
38. What does trisomy mean?
3 chromosomes
39. What are some of the symptoms of this disorder?
Clenched hands, close set eyes, decreased muscle tone and low set ears
40. What is the life expectancy of individuals with this disorder?
More than 90% die within the first year
Use https://www.nlm.nih.gov/medlineplus/downsyndrome.html to answer the following questions about Trisomy 21.
41. What is the common name of Trisomy 21?
Downs Syndrome
42. What are some of the features that make Trisomy 21 easy to recognize?
Stature, broad flat tongue, mental disabilities
Use http://medgen.genetics.utah.edu/photographs/pages/trisomy_18.htm to answer the following questions.
43. What is the other name for Trisomy 18?
Edwards Syndrome
44. Does this disorder affect more males or females?
Females
45. What are some of the symptoms of this disorder?
Small face and chest, low set ears, overlapping fingers, club foot
Use the following website http://www.turnersyndrome.org/#!overview/ctzx to answer questions about Turner’s
Syndrome
46. How is Turner’s Syndrome inherited?
Absence of a second sex chromosome
47. How is Turner’s Syndrome diagnosed?
Karyotype
48. What are some of the characteristics and symptoms of Turner’s Syndrome?
Droopy eyes, broad test, short stature
49. What are some of the treatments for Turner’s Syndrome?
Medication and therapies
Use http://www.ygyh.org/nf/whatisit.htm to answer the following questions:
50. How is Neurofibromatosis (NF1) inherited?
One parent gives mutates gene on chromosome 17
51. What are some of the characteristic symptoms of this disorder?
Pigmented spots on skin, benign growths and learning diabilibities
52. What treatment options are available for individuals afflicted with Neurofibromatosis?
Surgery to remove growths
Use http://www.niams.nih.gov/Health_Info/Bone/Osteogenesis_Imperfecta/osteogenesis_imperfecta_ff.asp to answer the
questions below concerning Osteogenesis Imperfecta
53. How is OI typically inherited?
Several are not functioning properly from the parents
54. How would a physician diagnose OI?
Family history, medical history, Xrays
55. What are the symptoms of OI?
Loose joints, curved spine, brittle bones and small body
56. What treatment options are available to individuals with OI?
Medication, care for brittle bones, physical therapy and surgery
Use http://www.ygyh.org/sickle/whatisit.htm to answer questions about Sickle Cell Anemia.
57. How is SCA inherited?
S-type beta-globin gene from one parent and a C-type from the other
58. What type of screening is done for SCA?
Hemoglobin screening
59. What happens to the red blood cells of individuals with SCA? What are some of the other symptoms of
SCA?
Pain associated with blocked vessels
60. What types of treatments are available to those afflicted with this disorder?
Bone marrow transplant
61. Why is SCA prevalent in Africa and therefore more prevalent in African-American populations than any other
racial group?
Carrying the sickle gene causes an immunity to Malaria, which is very common in Africa
Use http://www.ygyh.org/tay/whatisit.htm to answer the questions about Tay-Sach’s.
62. What ethnic group does Tay-Sachs present frequently in?
Jews of eastern European descent
63. What are some of the symptoms of Tay-Sach’s?
6 month babies lose or do not gain motor or mental skills, followed by paralysis and death by about age 5
64. Children born with Tay-Sach’s are not expected to live long. What are some of the treatments available
during their lifespan?
There is no cure or effective treatment, parents are encouraged to get tested before having children