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wasem · Credits: 8632 My Scrapbook

Question 16. Indicate which of the following statements are true.

a) An unaffected sibling of an individual with an autosomal recessive disorder has a one in two chance of being a carrier.
True False

b) Anticipation is commonly seen with autosomal recessive disorders.
True False

c)Daughters of a male with an X-linked disorder are obligate carriers.
True False

d) Children born to a female with a mitochondrial disorder are at risk of inheriting the disorder.
True False

e) A first cousin of a person with cystic fibrosis has a 1 in 8 chance of being a carrier.
True False

Question 18. Congenital heart defects:

a) occur in over 90% of babies with Down's syndrome.
True False

b) occur in over 90% of babies with trisomy 13 and trisomy 18.
True False

c) are a characteristic finding in the Di George/Shprintzen syndrome.
True False

d) can be caused by teratogens such as phenytoin and thalidomide.
True False

e) in isolation show multifactorial inheritance.
True False

Question 19. In Down's syndrome:

a) the karyotype always shows 47 chromosomes.
True False

b) the additional number 21 chromosome is usually of maternal origin.
True False

c) the risk for a female carrier of a balanced Robertsonian 21q21q translocation having a baby with Down's syndrome is 10-15%.
True False

d) prenatal diagnosis of all cases can be achieved by ultrasonography.
True False

e) Alzheimer's disease is associated with a gene-dosage effect.
True False

Question 20. Indicate which of the following features can be associated with Down's syndrome.

a) Vntricular septal defect.
True False

b) Brushfield spots.
True False

c) Single palmar crease.
True False

d) Hypertonia.
True False

e) Epicanthic folds.
True False

Question 21. The approximate risks for parents having a child with Down's syndrome are:

a) 10-15% if mother carries a 14/21 translocation.
True False

b) 1-3% if father carries a 14/21 translocation.
True False

c) 0.5-1% if they already have a child with the non-disjunction form of trisomy 21.
True False

d) 25% if the mother is 45 years of age.
True False

e) 100% if the mother carries a 21/21 translocation.
True False

Question 22. Indicate which of the following disorders can be caused by a microdeletion.

a) Turner's syndrome.
True False

b) Di George syndrome.
True False

c) Prader-Willi syndrome.
True False

d) HMSN Type Ia.
True False

e) Fragile X syndrome.
True False

Question 22. Indicate which of the following disorders can be caused by a microdeletion.

a) Turner's syndrome.
True False

b) Di George syndrome.
True False

c) Prader-Willi syndrome.
True False

d) HMSN Type Ia.
True False

e) Fragile X syndrome.
True False

Question 23. You would expect to find an abnormal karyotype in:

a) a boy with Klinefelter's syndrome.
True False

b) a child with Fanconi's anaemia.
True False

c) all children with male pseudohermaphroditism.
True False

d) the mothers of most children with Down's syndrome.
True False

e) an adult with chronic myeloid leukaemia.
True False

Question 24. Indicate which of the following features are associated with the fragile X syndrome (FRAX).

a) Mental retardation.
True False

b) Large testes.
True False

c) Only boys are affected.
True False

d) Dynamic triplet expansion.
True False

e) Can always be traced through carrier females.
True False

rick12 · Credits: 2641 My Scrapbook My Reading List 1 Books

16-a-T, b-F, c-T, d-T
18-- a?, b? c-T, d-F, e-T
19-- a-T, b?, c-T, d-F, e-T
21--- a-T, b-T, c-T, d-T, e-T
22--- a-F, b-F, c-F, d-T, e-T
23----a-T, b-F, c-F, d-F, e-F
24---- a-T, b-T, c-T, d?, e?

KINDLY CONFIRM THE ANSWERS AND LET ME KNOW MY MISTAKES AND QUESTIONS THAT I COULDNT ANSWERS...

wasem · Credits: 8632 My Scrapbook

thnx

ahalawany · Credits: 111 My Scrapbook

Thank u for these valuable questions.
Could u plz guide me with the answers, it will be very valuable for me as i have a soon exam, ur help will be highly appreciated.

jesee · Credits: 413 My Scrapbook

answers please

identity_crisis · Credits: 120 My Scrapbook

18. a-T, b-T
19. b-T
24 d-(?), e-T

identity_crisis · Credits: 120 My Scrapbook

18. a-T, b-T
19. b-T
24 d-(?), e-T

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