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GENETICS AND ENDOCRINOLOGY

1. True of genetic disorders

– There is no genetic basis for precise racial categorization in humans

2. Procedure that involves introduction of nucleic acids

– Gene therapy

3. The most common vector used in gene therapy

– Moloney retrovirus

4. The following are parts of karyotyping, except:

– Identification of a deletion

5. Cells used in chromosomal studies

– Leukocytes

6. Process when diploid cells divides to form haploid

– meiosis

7. Most frequent trisomy

– chromosome 21

8. 38 weeks, with rocker bottom feet

– Chromosome 18

9. To diagnose the case mentioned above

– Karyotyping

10. 5 months old, catlike cry

– Cri-du-chat syndrome

11. Chromosome involved above

–Chromosome 5

12. Phenotypic expression

– Genomic imprinting

13. Formed when deletion of the ends then joined together

– Ring chromosome

14. 8 years old, female with short stature, webbed neck, cubitus valgus

– Turners syndrome

CIM 2014

Dr. Barbra Cavan Genetics Quiz

15. Karyotype of above

– 45X

16. Cells with 92 chromosomes

– Polyploidy

17. Individuals with 2 different cell lines

– Mosaicism

18. True of genetic disorders

– It is more common in relatives of an affected individual than in the general population

19. Disorders appear in vertical pattern

– Autosomal dominant

20. Error of cell division

– Anaphase lag

21. Mucopolysacchiridosis defect

– Glycosaminoglycan

22. Gouty arthritis

– monosodium urate

23. Gunther disease, decrease in enzyme

– uroporphyrinogen cosynthetase

24. Scleroderma seen in

– Progeria

25. Hypoglycemia in neonates

– hypoxemia and ischemia may potentiate the role of hypoglycemia in causing permanent brain damage

26. Child is below 3 rd percentile

– Constitutional growth delay

27. How is noonan syndrome different from turner syndrome

– No sexual predilection

28. 11 years old, sees sounds, hears color

– LSD

CIM 2014

Dr. Barbra Cavan Genetics Quiz

29. 2 months old with fever

– Diabetes insipidus

30. Bone age advanced in

– Congenital adrenal hyperplasia

31. 5a reductase convert testosterone to

– Dihydrotestosterone

32. Menarche reached at

– SMR 4

33. 14 years old, short, normal PE

– Reassure the patient

34. Female appearing infant

– End-organ insensitivity to androgens

35. 7 years old, GH deficiency suspected

– Microphallus

36. Most common chromosome aneuploidy

– 47, XXY

37. Timing of ovulation

– Follows menarche by 12-24 months

38. 5 years old, with diabetes insipidus. What is the initial management

– 20cc/kg isotonic crystalloid over 1 hour

39. Definitive and confirmatory for GH deficiency

– Absent or low GH level after provocation

40. 14 years old, ataxic, nystagmus

– Phencyclidines

41. androstenodione is converted to testosterone by

– 17 ketosteroid reductase

42. Areola is enlarge, with secondary mound

– Tanner stage IV

CIM 2014

Dr. Barbra Cavan Genetics Quiz

43. Patients with constitutional delay

– is short during early adolescence

44. Infant with salt wasting and congenital adrenal hyperplasia, chromosomal analysis of 46xy, enzyme involved

– 3b hydrosteroid dehydrogenase

45. Prolonged jaundice, open anterior fontanel, enlarged tongue. Expected diagnostic findings

– presence of distal femoral epiphysis on xray

46. Penis lengthens, testes becomes larger, hair starts to curl

– Tanner stage III

47. Teenager with acne with meds, complains “not being herself”. Best course of action

– discontinue the drug immediately and refer to psychiatrist

48. Average parental height, mother=175 cm, father=193cm

– 177

49. Most important test for a 14yo girl with primary amennorhea, short stature, murmur at the right sterna border

– karyotyping

50. Brought to the ER, passed out, most useful test

– hemoglucose test

CIM 2014

Dr. Barbra Cavan Genetics Quiz