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Paediatrics > Chromosomal Abnormalities > Flashcards

Chromosomal Abnormalities Flashcards

1
Q

Which disease is caused by trisomy 18?

A

Edward’s syndrome

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2
Q

Give 5 features of Edward’s syndrome.

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

Which cardiac problems are associated with Edward’s syndrome?

A

VSD
ASD
PDA

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4
Q

Which disease is caused by trisomy 13?

A

Patau’s syndrome

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5
Q

Give 6 features of Patau’s syndrome.

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

What is the karyotype that causes Turner’s syndrome?

A

45XO

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7
Q

Which heart problem is associated with Turner’s syndrome?

A

Coarctation of aorta.

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8
Q

Which facial features are associated with Turner’s syndrome?

A

Downward-turned mouth
Downward slanting palpebral fissures
Small chin

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9
Q

Which sex are patients with Turner’s syndrome?

A

Female

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10
Q

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

A 
Webbed neck
Short stature
Wide spaced nipples
Lymphodema
Streak gonads
Lack of secondary sexual development
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11
Q

Which syndrome does an XXY karyotype lead to?

A

Klinefelter’s syndrome.

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12
Q

Give 5 features of Klinefelter’s syndrome.

A
  1. Infertility
  2. Hypogonadism, microorchidism
  3. Gynaecomastia
    4 Tall stature
  4. Intelligence from normal to moderate learning difficulties
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13
Q

Give 3 behavioural characteristics of people with fragile X syndrome.

A

Autistic behaviours
Hand flapping
ADD

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14
Q

Give 3 facial features of somebody with fragile X syndrome.

A

Long face
Prominent ears
Large chin

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15
Q

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

A

Fragile X syndrome

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16
Q

Which symptoms of Prader Willi Syndrome are evident at birth?

A

Hypotonia
Feeding problems
Hypogonadism

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17
Q

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

A 
Failure to thrive
Scoliosis
Hyperphagia
Obesity
Development delay/learning difficulties
18
Q

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

A 
Almond shaped eyes
Pale skin
Light hair
Small hands and feet
Hypogonadism
19
Q

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

A

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

20
Q

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

A

William’s syndrome

21
Q

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

A 
Flat nasal bridge
Small upturned nose
Prominent lips and open mouth
Widely spaced teeth
Long philtrum
22
Q

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

A

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

23
Q

What is the chromosome abnormality in DiGeorge syndrome?

A

Chromosome 22 deletion.

24
Q

Which cardiac anomalies are associated with DiGeorge syndrome?

A

Interrupted aortic arch
TOF
Truncus arteriosis

25
Q

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

A
  1. Abnormal faces
  2. Thymic aplasia
  3. Clef palate
  4. Hypocalcaemia
26
Q

What does TORCH stand for?

A 
Toxoplasmosis
Other (e.g. syphilis)
Rubella
Cytomegalovirus
Herpes simplex
27
Q

Name 5 features of Toxoplasmosis.

A
  1. Hydrocephalus (or microcephaly)
  2. Chorioretinitis.
  3. Cerebral calcification
  4. Cerebral palsy
  5. Epilepsy
28
Q

Give 5 features of congenital cytomegalovirus infection.

A 
Low birth weight
Microcephaly
Cerebral calcification
Hepatosplenomegaly with jaundice
Petechiae
29
Q

How would you treat congenital cytomegalovirus infection?

A

Gangcyclovir

30
Q

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

A 
Hearing loss
Mental retardation
Psychomotor delay
Cerebral palsy
Impaired vision
31
Q

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

A

Pulmonary artery stenosis

Patent ductus arteriosus

32
Q

Give 5 signs of congenital rubella syndrome.

A
  1. Cataracts
  2. Microphthalmos
  3. Sensorineural hearing loss
  4. Thrombocytopenic purpura (blueberry muffin rash)
  5. Hepatomegaly
33
Q

Which facial features are associated with foetal alcohol syndrome?

A 
Epicanthic folds
Low nasal bridge
Absent philtrum
Thin upper lip
Small chin
34
Q

Which cardiac defects are associated with foetal alcohol syndrome?

A

VSD

ASD

35
Q

Give 4 problems commonly associated with foetal alcohol syndrome.

A

Microcephaly
Growth retardation
Limb abnormalities
Learning difficulties/behavioural problems

36
Q

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

A

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

37
Q

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

A

Neural tube defects (1-2%)

38
Q

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

A

Ebstein’s anomaly (rare heart defect)

39
Q

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

A 
Frontal bossing
Cardiac defects
Microcephaly
Nasal hypoplasia
Epiphyseal stippling
40
Q

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

A

Discolouration of teeth

Paediatrics (2 decks)

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