Chromosomal Abnormalities

Question 1

Which disease is caused by trisomy 18?

Answer 1

Edward’s syndrome

Question 2

Give 5 features of Edward’s syndrome.

Answer 2

1. Microcephaly
2. Low set ears
3. Small chin
4. Overlapping fingers
5. Rocker bottom feet

Question 3

Which cardiac problems are associated with Edward’s syndrome?

Answer 3

VSD
ASD
PDA

Question 4

Which disease is caused by trisomy 13?

Answer 4

Patau’s syndrome

Question 5

Give 6 features of Patau’s syndrome.

Answer 5

1. Holoprosencephaly
2. Structural eye defects
3. Polydactyly
4. Cutis aplasia (skin defects)
5. Cardiac defects
6. Renal defects

Question 6

What is the karyotype that causes Turner’s syndrome?

Answer 6

45XO

Question 7

Which heart problem is associated with Turner’s syndrome?

Answer 7

Coarctation of aorta.

Question 8

Which facial features are associated with Turner’s syndrome?

Answer 8

Downward-turned mouth
Downward slanting palpebral fissures
Small chin

Question 9

Which sex are patients with Turner’s syndrome?

Answer 9

Female

Question 10

Give 6 features (not-facial) of people with Turner’s syndrome.

Answer 10

Webbed neck
Short stature
Wide spaced nipples
Lymphodema
Streak gonads
Lack of secondary sexual development

Question 11

Which syndrome does an XXY karyotype lead to?

Answer 11

Klinefelter’s syndrome.

Question 12

Give 5 features of Klinefelter’s syndrome.

Answer 12

1. Infertility
2. Hypogonadism, microorchidism
3. Gynaecomastia
   4 Tall stature
4. Intelligence from normal to moderate learning difficulties

Question 13

Give 3 behavioural characteristics of people with fragile X syndrome.

Answer 13

Autistic behaviours
Hand flapping
ADD

Question 14

Give 3 facial features of somebody with fragile X syndrome.

Answer 14

Long face
Prominent ears
Large chin

Question 15

In which chromosomal abnormality are the following common features?:
Learning difficulties
Macroorchidism
Connective tissue problems such as flat feet, and hyperflexible joints

Answer 15

Fragile X syndrome

Question 16

Which symptoms of Prader Willi Syndrome are evident at birth?

Answer 16

Hypotonia
Feeding problems
Hypogonadism

Question 17

Which 6 symptoms of Prader Willi syndrome may be noticeable later on (after birth).

Answer 17

Failure to thrive
Scoliosis
Hyperphagia
Obesity
Development delay/learning difficulties

Question 18

What is the physical appearance of somebody with Prader Willi Syndrome?

Answer 18

Almond shaped eyes
Pale skin
Light hair
Small hands and feet
Hypogonadism

Question 19

What are the facial features of somebody with Noonan’s syndrome?

Answer 19

Hypertelorism (eyes wide apart)
Triangular face
Show webbed neck
Low set ears

Question 20

In which syndrome can a patient be described as having cocktail party conversation?

Answer 20

William’s syndrome

Question 21

What is the facial appearance of somebody with William’s syndrome?

Answer 21

Flat nasal bridge
Small upturned nose
Prominent lips and open mouth
Widely spaced teeth
Long philtrum

Question 22

Give 3 features (not facial) of somebody with William’s syndrome.

Answer 22

Mild to moderate learning difficulty
Cardiac defects e.g. supravalvular aortic stenosis
Transient hypercalcaemia in infancy

Question 23

What is the chromosome abnormality in DiGeorge syndrome?

Answer 23

Chromosome 22 deletion.

Question 24

Which cardiac anomalies are associated with DiGeorge syndrome?

Answer 24

Interrupted aortic arch
TOF
Truncus arteriosis

Question 25

Other than cardiac anomalies, give 4 signs of DiGeorge syndrome.

Answer 25

1. Abnormal faces 2. Thymic aplasia 3. Clef palate 4. Hypocalcaemia

Question 26

What does TORCH stand for?

Answer 26

``` Toxoplasmosis Other (e.g. syphilis) Rubella Cytomegalovirus Herpes simplex ```

Question 27

Name 5 features of Toxoplasmosis.

Answer 27

1. Hydrocephalus (or microcephaly) 2. Chorioretinitis. 3. Cerebral calcification 4. Cerebral palsy 5. Epilepsy

Question 28

Give 5 features of congenital cytomegalovirus infection.

Answer 28

``` Low birth weight Microcephaly Cerebral calcification Hepatosplenomegaly with jaundice Petechiae ```

Question 29

How would you treat congenital cytomegalovirus infection?

Answer 29

Gangcyclovir

Question 30

Which 5 things are people with congenital cytomegalovirus infection at risk of?

Answer 30

``` Hearing loss Mental retardation Psychomotor delay Cerebral palsy Impaired vision ```

Question 31

Which two cardiac problems are patients with congenital rubella syndrome at risk of?

Answer 31

Pulmonary artery stenosis | Patent ductus arteriosus

Question 32

Give 5 signs of congenital rubella syndrome.

Answer 32

1. Cataracts 2. Microphthalmos 3. Sensorineural hearing loss 4. Thrombocytopenic purpura (blueberry muffin rash) 5. Hepatomegaly

Question 33

Which facial features are associated with foetal alcohol syndrome?

Answer 33

``` Epicanthic folds Low nasal bridge Absent philtrum Thin upper lip Small chin ```

Question 34

Which cardiac defects are associated with foetal alcohol syndrome?

Answer 34

VSD | ASD

Question 35

Give 4 problems commonly associated with foetal alcohol syndrome.

Answer 35

Microcephaly Growth retardation Limb abnormalities Learning difficulties/behavioural problems

Question 36

Which congenital defects are related to the use of phenytoin in pregnancy?

Answer 36

Cleft lip/palate Cardiac defects Hypoplastic nails Craniofacial abnormalities (foetal hydantoin syndrome)

Question 37

Which congenital defects are related to the use of sodium valproate/carbamazepine during pregnancy?

Answer 37

Neural tube defects (1-2%)

Question 38

Which congenital defects are related to the use of lithium during pregnancy?

Answer 38

Ebstein's anomaly (rare heart defect)

Question 39

Which 5 congenital defects are related to the use of warfarin during pregnancy?

Answer 39

``` Frontal bossing Cardiac defects Microcephaly Nasal hypoplasia Epiphyseal stippling ```

Question 40

Which congenital defect is related to the use of tetracycline during pregnancy?

Answer 40

Discolouration of teeth