Genetics

Question 1

State 3 causes of down syndrome

Answer 1

Non disjunction during meiosis
Robertsonian translocation
Mosaics

Question 2

Cardiac abnormalities in Down syndrome x5

Answer 2

Atrioventricular septal defects
ASD, VSD, PDA, ToF

Question 3

Physical characteristics of downs x5

Answer 3

1.Single/bridged palmer crease
2.Enlarged sandle gap
3.Flat occiput and nasal bridge
4.Epicanthal folds
5. Up slanting palpebral fissures

Question 4

Describe brushfield spots in downs

Answer 4

Small white or grey/brown spots on the periphery of the iris

Question 5

Pulmonary complications of downs x5

Answer 5

1.Asthma
2.Pulmonary hypertension due to chronic hypoxia
3.Sleep disordered breathing
4.Recurrent respiratory infections
5.Laryngomalacia or tracheobronchomalacia

Question 6

Complications of downs by organs x5

Answer 6

Heart- septal defects
GIT- duodenal atresia
Blood- acute lymphoblastic leukemia
Brain- mental retardation
Repro- sterility in males

Question 7

Clinical features of turners syndrome x5

Answer 7

Short stature
Webbed neck
Cubitus valgus
Delayed puberty
Broad chest with spaced nipples

Question 8

Features of turner syndrome by organs and system affected x4

Answer 8

Heart- preductal coarctation of the aorta, bicuspid aortic valve (2 leaflets instead of 3)
Kidney- horseshoe congenital abnormalities
Lymphatic abnormalities
Skeletal abnormalities

Question 9

Define hemophilia, its types x2 and effect

Answer 9

X linked bleeding disorder
A- deficiency of factor viii
B- factor ix
It delays the generation of thrombin

Question 10

Primary causes of hypothyroidism x5

Answer 10

Iodine deficiency
Thyroid dysgenesis
Maternal medications
Defects in thyrotropin responsiveness
Defects in thyroid hormone synthesis

Question 11

Causes of secondary hypothyroidism x2

Answer 11

Isolated TSH deficiency
Multiple pituitary hormone deficiencies

Question 12

Define malformation

Answer 12

Structural defect due to localized error in morphogenesis resulting in abnormal formation of tissue or organs

Question 13

Deformation

Answer 13

Alteration in shape or structure of an organ or structure that has developed normally

Question 14

Disruption

Answer 14

Defect resulting from the destruction of a structure that had formed normally before the insult

Question 15

Sequence

Answer 15

Single error in morphogenesis that results in a series of subsequent defects

Question 16

Other anomalies associated with Down syndrome x5

Answer 16

Juvenile idiopathic arthritis
Hypothyroidism
Immune dysfunction
Leukemia
Seizures
Alopecia
DM

Question 17

Cardiac features in turners syndrome x4

Answer 17

Aortic valve stenosis
Aortic coarctation, dilation and rapture

Question 18

Features of autosomal dominant trait pedigree x3

Answer 18

Both males and females affected
Male to male transmission
Does not skip generations

Question 19

Features of autosomal recessive trait pedigree x2

Answer 19

Both males and females affected
It may skip generations

Question 20

Features of x linked recessive pedigree

Answer 20

When an affected son has two non affected parents (trait from father)

Question 21

Features of x linked dominant pedigree

Answer 21

Both males and females are affected

Question 22

Diagnosis of hemophilia

Answer 22

aPTT - prolonged

Question 23

Clinical manifestation of hypothyroidism x7

Answer 23

Wide anterior and posterior fontanelle
Feeding difficulties, too much sleep and little crying
Prolonged jaundice or delayed maturation of hepatic glucoronide conjugation
Noisy respirations and nasal obstruction

Question 24

GIT manifestation of hypothyroidism x3

Answer 24

Hernia
Constipation
Large abdomen