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1.

During gestation the testis migrates down towards the inguinal canl, guided by
mesenchymal tissue known as the
a. Mullerian duct
b. paramesonephron
c. mesonephron
d. paranephron
e. gubernaculum
2. A tongue of peritoneum that precedes the migrating testes through thge inguinal canal
a. paramesonephron
b. Processus vaginalis
c. mesonephron
d. gubernaculum
e. Mullerian duct
3. This condition is due ot a localised skin disease known as balanitis xerotica obliterans
a. Preputial adhesions
b. Phimosis
c. Preputiophosis
d. Epithelial squames
e. Balanoposthis
4. Also known as cyrptorchidism
a. Undescended testis
b. Direct hernai
c. Varicocele
d. Indirect hernia
e. Hydrospadia
5. Associated with the 'blue dot sign'
a. Epididymo-orchitis
b. Bell Clapper deformity
c. Glanular hydidiform
d. Hypospadia
e. Hydatid of Morgagni
6. What percentage of full-term male infants will have an undescended testis at birth?
a. 2%
b. 12%
c. 8%
d. 4%
e. 20%
7. An embryological remnant found on the upper pole of the testis
a. Bell Clapper deformity
b. Hypospadia
c. Hydatid of Morgagni
d. Glanular hydidiform
e. Epididymo-orchitis

8. With regards to hernias, which of the following is FALSE?
a. If reduction is impossible, surgery is delayed for 24-48 hours
b. Surgery for hernias can usually be done as a day-case
c. an inginal hernai may present as an irreducable lump in the groin or scrotum
d. An inguinal hernai may be associated with irritability and vomiting
e. Most irreduciable hernias can be reduced following opoid analgesia
9. May result in girls from infection, specific irritants, poor hygeine, sexual abuse or
threadworm
a. Preputiophosis
b. Epithelial squames
c. Preputial adhesions
d. Vulvovaginitis
e. Balanoposthis
10. Redness and inflammation of the foreskin, sometimes with purulent discharge
a. Phimosis
b. Epithelial squames
c. Balanoposthis
d. Preputiophosis
e. Preputial adhesions
11. Asymptomatic scrotal swelling, often bilateral, and sometimes with a blueish
discolouration. Contains peritoneal fluid.
a. Hydrocele
b. Hydrospadia
c. Direct hernai
d. Varicocele
e. Indirect hernia
12. The foreskin becomes trapped in the retracted position proximal to a swollen glans
a. Epithelial squames
b. Balanoposthis
c. Paraphimosis
d. Preputial adhesions
e. Preputiophosis
13. In patients who have an inappropriately high attachment of the tunica vaginalis, the
testicle can rotate freely on the spermatic cord within the tunica vaginalis. This congenital
anomaly is called the
a. bell clapper deformity
b. Hydatid of Morgagni
c. Bellend deformity
d. Hypospadia
e. Epididymo-orchitis
14. Hernias are ...
a. more common in girls
b. usually direct in infants
c. more common in term infants
d. more common on the right side
e. due to a patent vas deferens
15. Failure of this perioneal extension to obliterate after birth may lead ot the development
of an inguinal hernia or hydrocele
a. mesonephron
b. Processus vaginalis
c. gubernaculum
d. paramesonephron
e. Mullerian duct
16. Which of the following is FALSE regarding hypospadias?
a. there is a hooded dorsal foreskin
b. chordee iss apparent in more sever forms
c. there is a ventral urethral meatus
d. may lead to micturition problems
e. Early circumcision is beneficial
17. Hypospadias affect 1 in ______ boys
a. 600
b. 200
c. 400
d. 1000
e. 800
18. Surgical placement of the testes in the scrotum
a. testoplexy
b. orchistatis
c. orchidectomy
d. orchidopexy
e. orchidotomy
19. Often advised for a unilateral intra-abdominal testis that can not be corrected, becasue
of the risk of future malignancy
a. orchidopexy
b. orchidectomy
c. orchistatis
d. orchidotomy
e. testoplexy
20. A ventral curvature of the shaft of the penis, most apparent on erection
a. Chordee
b. Hydatid of Morgagni
c. Epididymo-orchitis
d. Glanular hydidiform
e. Bell Clapper deformity
21. In about 50% of females with this condition, there are 45 chromosomes, with only 1 X
chromosome. Incidence does not increase with maternal age and risk of recurrence is very
low.
a. Edwards' syndrome
b. Noonan syndrome
c. Marfan syndrome
d. Kleinfelter syndrome
e. Turner's syndrome
22. Refers to abnormal cellular organization or function of specific tissue types
a. Dysplasia
b. Disruption
c. Deformation
d. Malformation
e. Dysmorphology
23. A high proportion of female carriers have learning difficulties and around one fifth of
males who inherit the mutation are phenotypically normal. The norma copy of the involved
gene contains fewer than 50 copies of the CGG trinucleotide repeat sequence
a. Fragile X syndrome
b. Huntingtons disease
c. Spinocerebellar ataxia
d. Fredreich's ataxia
e. Myotonic dystrophy
24. At least ____% of people with trisomy 21 live to over 50 years of age
a. 20
b. 30
c. 60
d. 40
e. 50
25. Male and female offspring each have a 50% chance of inheriting the abnormal gene if
one parent is affected
a. Y linked
b. Autosomal recessive
c. X-lined dominant
d. X-lined recessive
e. Autosomal dominant
26. Daughters of affected males will be carriers, but sons of affected males will not be
affected.
a. Autosomal recessive
b. X-lined dominant
c. Y linked
d. Autosomal dominant
e. X-lined recessive
27. Rett's syndrome and incontinentia pigmenti are examples
of this type of disorder
a, Y linked
b. Autosomal dominant
c. X-lined dominant
d. X-lined recessive
Autosomal recessive
28. Which of the following is NOT a result of multifactorial inheritance?
a. Hunter's syndrome
b. Pyloric stenosis
c. Diabetes mellitus
d. Talipes
e. Hypospadias
29. Clinical features include: characteristic facies, occasional mild learning difficulties, short
webed neck with trident hairline, pectus excavatum, short stature, congenital heart disease
a. Prader-Willi syndrome
b. Down's syndrome
c. Noonan's syndrome
d. William's syndrome
e. Potter's syndrome
30. For two carrier parents, the risk of a child being affected by an autosomal recessive
condition is
a. 50%
b. 75%
c. 25%
d. 5%
e. 100%
31. Fragile X syndrome, myotonic dystrophy, Huntingtons disease, spinocerebellar ataxia
and Fredreich's ataxia are all due to mutations of this kind
a. Non-penetrance
b. Mitochondrial or cytoplasmic inheritance
c. Homozygosity
d. Gonadal mosaicism
e. Trinucleotide repeat expansion mutations
32. Which of the following is NOT an autosomal recessive disorder?
a. Phenylketonuria
b. Thalassaemia
c. Tuberous sclerosis
d. Sickle cell disease
e. Tay sachs disease
33. In cases where Downs syndrome is caused by a translocation, neither parent carries a
translocation in ___ % of cases
a. 100
b. 0
c. 50
d. 75
e. 25
34. Spina bifida is an example of a(n)
a. Communication
b. Single-system defect
c. Sequence
d. Association
e. Syndrome
35. The most common mode of Mendelian inheritance
a. X-lined dominant
b. Autosomal recessive
c. Y linked
d. X-lined recessive
e. Autosomal dominant
36. Which of the following is NOT an autosomal domianant disorder?
a. Marfan's syndrome
b. Huntington's disease
c. Achondroplasia
d. Ehler-Danlos syndrome
e. William's syndrome
37. Genetically determined diseases resulting from the action of a single gene
a. Multifactorial disorders
b. Polygenic disorders
c. Unigraphic disorders
d. Idiographic disorders
e. Mendelian disorders
38. The least common (1%) cytogenetic reason for trisomy 21
a. translocation
b. non-disjunction
c. dipartisanism
d. mosaicism
e. polyandroginism
39. Clinical features include short stature, characteristic facies, transient neonatal
hypercalcaemia (occasionally), supravalvular aortic stenosis, mild to moderate learning
difficulties
a. Potter's syndrome
b. Prader-Willi syndrome
c. Down's syndrome
d. William's syndrome
e. Noonan's syndrome
40. The study of abnormal form
a. Dysplasia
b. Disruption
c. Malformation
d. Deformation
e. Dysmorphology
41. Disorders which result from the additive effect of several genes with or without the
influence of the environment are said to follow
a. Multifactorial inheritance
b. Mitochondrial ineritance
c. Autosomal recessive inheritance
d. Mendelian inheritance
e. Cytoplasmic inheritance
42. The risk of recurrence of Down's syndrome is 1 in 200 for mothers aged under 35
a. dipartisanism
b. non-disjunction
c. polyandroginism
d. mosaicism
e. translocation
43. When the extra chromosome 21 is joined onto another chromosome (usually 14 but
occasionally 15, 22, or 21).
a. polyandroginism
b. non-disjunction
c. dipartisanism
d. mosaicism
e. translocation
44. A primary structural defect occurring during the development of a tissue or organ
a. Disruption
b. Malformation
c. Dysmorphology
d. Dysplasia
e. Deformation
45. Clinical findings include moderate-severe learning difficulty, macrocephaly, prominent
ears, long face, prominent mandible and broad forehead, mitral prolapse, joint laxity,
scoliosis, autism, hyperactivity.
a. Huntingtons disease
b. Myotonic dystrophy
c. Spinocerebellar ataxia
d. Fredreich's ataxia
e. Fragile X syndrome
46. An extremely rare group of disorders. Only males are affected. Transmission is from an
affcted father to all his sons.
a. Autosomal dominant
b. X-lined recessive
c. Y linked
d. Autosomal recessive
e. X-lined dominant
47. The incidence of Downs syndrome (without antenatal screening) in live born infants is
about 1 in _____
a. 1250
b. 850
c. 650
d. 350
e. 1050
48. Which of the following is NOT an autosomal domianant disorder?
a. Osteogenesis imprefecta
b. Tuberous sclerosis
c. Noonan's syndrome
d. DiGeorge syndrme
e. Neurofibromatosis
49. Trisomy 13 - structural brain defect, scalp defect, small eyes, cleft lip & palate,
polydactyly, cardiac and renal malformations
a. Noonan syndrome
b. Turner's syndrome
c. Edwards' syndrome
d. Patau's syndrome
e. Kleinfelter syndrome
50. Clinical features include infertility, hypogonadism, gynaecomastia, tall stature, possible
educational and psychological problems.
a. Kleinfelter syndrome
b. Patau's syndrome
c. Noonan syndrome
d. Turner's syndrome
e. Edwards' syndrome
51. ___% of live born babies have a significant congenital malformation and ___% have a
genetic disorder
a. 2, 5
b. 0.5, 0.2
c. 4, 8
d. 1, 2
e. 0.1, 0.5
52. Balanced recriprocal translations occur in 1 in _____ of the general population
a. 50
b. 100
c. 250
d. 1000
e. 500
53. If a parent carries a 21:21 translocation, ____% of the offspring will have Down's
syndrome
a. 25
b. 100
c. 50
d. 15
e. 5
54. Which of the following is NOT an X linked recessive disorder?
a. Duchenne's muscular dystrophy
b. Haemophilia A and B
c. Hunter's syndrome
d. Red-green colour blindness
e. Ehlers-Danlos syndrome
55. Detected by ultrasound antenatally when fetal oedema of the nexk, hands or feet, or a
cystic hygroma (lymphatic lesion) may be identified. In live born females, incidence is 1 in
2500.
a. Turner's syndrome
b. Down's syndrome
c. Noonan syndrome
d. Marfan syndrome
e. Kleinfelter syndrome
56. Leber's hereditary optic neuropathy is an example of a condition caused by this type of
inheritance
a. Autosomal recessive
b. X-lined dominant
c. Autosomal dominant
d. Mitochondrial
e. X-lined recessive
57. In Hirschsprungs disease, the male to female ratio is
a. 1:3
b. 4:1
c. 1:4
d. 2:1
e. 3:1
58. The risk of recurrence of Down's syndrome is 10-15% if the mother is the carrier and
about 2.5% if the father is the carrier
a. translocation
b. non-disjunction
c. dipartisanism
d. mosaicism
e. polyandroginism
59. Clinical features include: characteristic facies, hypotonia, neonatal feeding difficulties,
obesity in later childhood, hypogonadism, developmental delay, learning difficulties
a. William's syndrome
b. Noonan's syndrome
c. Prader-Willi syndrome
d. Down's syndrome
e. Potter's syndrome
60. A pattern of multiple abnormalities occurring after one initiating defect.
a. Syndrome
b. Sequence
c. Association
d. Communication
e. Single-system defect
61. A distinctive neurobehavioural condition with severe
developmental delay, profound speech impairment, an ataxic wide based gait, and a specific
behavioural phenotype (excitable, hand flapping, and inappropriately happy affect)
a, Williams' syndrome
b. Prader-Willi syndrome
c. Angelman syndrome
d. Noonan's syndrome
e. Rett syndrome
62. Trisomy 18 - low birthweight, prominent occiput, small mouth and chin, short sternum,
flexed overlapping fingers, rocker bottom feet, cardiac and renal malformations.
a. Kleinfelter syndrome
b. Turner's syndrome
c. Patau's syndrome
d. Edwards' syndrome
e. Noonan syndrome
63. Also known as cri du chat syndrome
a. trisomy 5p
b. monosomy 5p
c. monosomy 4p
d. monomsomy 18p
e. trisomy 18p
64. Due to a deletion of chromosome 22 at band 22q11. Facial features include periorbital
fullness, full cheeks, anteverted nares, wide mouth with full lips, small widely spaced teeth.
a. Patau's syndrome
b. Marfan syndrome
c. Williams syndrome
d. Kleinfelter syndrome
e. Noonan syndrome
65. Implies an abnormal intrauterine mechanical force that distorts a normally formed
structure
a. Disruption
b. Dysplasia
c. Malformation
d. Deformation
e. Dysmorphology
66. An affected individual is homozygous for the abnormal gene, having inherited an
abnormal allele from each parent, both of whom are unaffected heterozygous carriers
a. Y linked
b. X-lined dominant
c. Autosomal recessive
d. Autosomal dominant
e. X-lined recessive
67. In autosomal recessive inheritance, what percentage of affected individuals will be
carriers?
a. 75%
b. 100%
c.50%
d. 5%
e. 25%
68. If the deletion affects the maternal chromosome 15, the child will have Angelman
syndrome, if it affects the paternal chromosome, the child will have ________
a. Prader-Willi syndrome
b. Rett syndrome
c. Williams' syndrome
d. Noonan's syndrome
e. Fragile X syndrome
69. The estimated incidence of chromosomal abnormalities in live born infants is about 1 in
____
a. 150
b. 200
c. 500
d. 100
e. 1000
70. The second most common cause of severe learning difficulties
a. Fragile X syndrome
b. Myotonic dystrophy
c. Huntingtons disease
d. Fredreich's ataxia
e. Spinocerebellar ataxia
71. Involves destruction of a foetal part which initially formed
normally
a, Malformation
b. Dysplasia
c. Deformation
d. Disruption
e. Dysmorphology
72. The risk of recurrence of neural tube defects is reduced from ___% to ___% or less if the
mother takes folate before conception and in the early weeks of pregnancy
a. 5, 0.1
b. 2, 0.5
c. 10, 5
d. 4,1
e. 20, 5
73. Over ____% of infants with trisomy 21 survive to one year of age
a. 75
b. 55
c. 85
d. 95
e. 65
74. The phenomenon whereby some genes are actively expressed only if they have been
derived from a parent of a given sex
a. imprinting
b. cytoplasmic inheritance
c. mosaicism
d. homozygosity
e. non penetrance
75. Prader Willi syndrome and Angelman syndrome are subject to this phenomenon
a. non penetrance
b. homozygosity
c. cytoplasmic inheritance
d. imprinting
e. mosaicism
76. The most common (94%) cytogenetic reason for trisomy 21
a. polyandroginism
b. non-disjunction
c. dipartisanism
d. mosaicism
e. translocation
77. When a particular set of anomalies occurs repeatedly in a consistent pattern
a. Association
b. Syndrome
c. Sequence
d. Communication
e. Single-system defect
78. Chromosomal abnormalities occur in approximately ___% of spermatozoa and ____% of
mature oocytes
a. 2, 4
b. 10, 5
c. 10, 25
d. 5, 10
e. 1, 2
79. A group of malformations that occur together more often than expected by chance, but
in different combinations from case to case
a. Communication
b. Syndrome
c. Sequence
d. Single-system defect
e. Association
80. Which of the following is NOT an autosomal recessive disorder?
a. Friedreich's ataxia
b. Noonan's syndrome
c. Hurler's syndrome
d. Cystic fibrois
e. Congenital adrenal hyperplasia
81. Clinical features include spoon shaped nails, short stature, neck webbing, widely spaced
nipples, congenital heart defects, delayed puberty.
a. Kleinfelter syndrome
b. Noonan syndrome
c. Patau's syndrome
d. Turner's syndrome
e. Edwards' syndrome
Answer key
1. E
2. B
3. B
4. A
5. E
6. D
7. C
8. A
9. D
10. C
11. A
12. C
13. A
14. D
15. B
16. E
17. B
18. D
19. B
20. A
21. E
22. A
23. A
24. E
25. E
26. E
27. C
28. A
29. C
30. B
31. E
32. C
33. D
34. B
35. E
36. E
37. E
38. D
39. D
40. E
41. A
42. B
43. E
44. B
45. E
46. C
47. C
48. D
49. D
50. A
51. A
52. E
53. B
54. E
55. A
56. C
57. E
58. A
59. C
60. B
61. C
62. D
63. B
64. B
65. D
66. C
67. B
68. A
69. A
70. A
71. D
72. D
73. C
74. A
75. D
76. B
77. B
78. C
79. E
80. B
81. D