GENETICS AND ENDOCRINOLOGY

1. True of genetic disorders

There is no genetic basis for precise racial categorization in humans
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9.

Procedure that involves introduction of nucleic acids

Gene therapy
The most common vector used in gene therapy
Moloney retrovirus
The following are parts of karyotyping, except:
Identification of a deletion
Cells used in chromosomal studies
Leukocytes
Process when diploid cells divides to form haploid
meiosis
Most frequent trisomy
chromosome 21
38 weeks, with rocker bottom feet
Chromosome 18
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 3rd 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

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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