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Zero to finals Paediatrics Marina > Genetics > Flashcards

Genetics Flashcards

1
Q

What are features of Down’s syndrome?

A

Face = upslanting palpebral fissures, prominent epicanthic folds, brush field spots in iris, protruding tongue, small low set ears, flat occipital

Single palmar crease

Sandal gap

Hypotonia

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2
Q

What are cardiac associations with Down’s syndrome?

A

Ventricular septal defect

Atrial septal defect

AV septal canal defect

Tetralogy of Fallot

PDA

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3
Q

What are long-term complications of Down’s syndrome?

A

Subfertility

Short stature

Recurrent otitis media

Increased risk of ALL

Hypothyrodism

Alzheimer’s

Learning disability

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4
Q

What are clinical features of Klinefelter’s syndrome?

A

Lack of secondary sexual characteristics

Taller than average

Small testicles

Infertility

Gynaecomastia (increased risk of breast cancer)

LH and FSH = High

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5
Q

Are LH and FSH high or low in Klinefelter’s?

A

High

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6
Q

What are features of Turner syndrome?

A

Short stature

Webbed neck

Widely spaced nipples

Primary amenorrhoea

High-arched palate

Cubitus valves

Lymphoedema as a neonate (esp of feet)

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7
Q

What are associated conditions with Turner Syndrome?

A

Bicuspid aortic valve

Coarctation of the aorta

Recurrent otitis media

Recurrent UTI

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8
Q

What hereditary pattern does Noonan syndrome have?

A

Autosomal dominant

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9
Q

What are features of Noonan syndrome?

A

Short stature

Webbed neck

Widely spaced nipples

Broad forehead

Downward facing eyes

Low set ears

Triangular face

Ptosis

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10
Q

What conditions are associated with Noonan Syndrome?

A

Congenital heart disease - esp pulmonary valve stenosis

Undescended testes

Learning disability

Coagulation problems

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11
Q

What hereditary pattern does Marfan syndrome have?

A

Autosomal dominant

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12
Q

What are features of Marfan syndrome?

A

Tall stature

Long neck

Long limbs

Long fingers

High arched palate

Hyper mobility

Pectus excavatum

Pes planus (flat foot)

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13
Q

What conditions are associated with Marfan syndrome?

A

Upward lens dislocation

Dilation of aortic sinuses - can lead to aortic aneurysm/dissection/regurg

Mitral valve prolapse - can lead to mitral regurgitation

Recurrent pneumothorax

Scoliosis

Ductal ectasia

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14
Q

What medication can be used in Marfan syndrome to reduce morbidity/mortality?

A

Beta blocker or ACEi

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15
Q

What are features of Fragile X Syndrome? (mnemonic)

A

e X tra large testes, jaws, and ears”

Intellectual disability

Long thin face

Large ears

High arched palate

Large testicles

Hyper mobility

Autism/ADHD

Hypotonia

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16
Q

What are features of Prader-Willi Syndrome? (mnemonic)

A

Constant insatiable hunger leading to obesity

Hypotonia as a baby

dysmorphic features

Short stature

Hypogonadism

Learning difficulties

Almond shaped eyes

Behavioural problems

Prader: paternal imprinting, angelman: maternal imprinting

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17
Q

What medication can be used in Prader Willi Syndrome?

A

Growth hormone

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18
Q

What are features of Angelman Syndrome?

A

Delayed development

Intellectual disability

Severe delay or absence of speech develop,ent

Fascination with water

Happy demeanour

Widely spaced teeth

Inappropriate laughter

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19
Q

What are features of Edward’s syndrome?

A

Micrognathia (small lower jaw)

Low set ears

Rocker bottom feet

Overlapping of fingers

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20
Q

What are features of Patau syndrome?

A

Microcephaly

Small eyes

Cleft lip/palate

Polydactyly

Scalp lesions

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21
Q

What are features of William syndrome?

A

Broad forehead

Starburst eyes

Flattened nasal bridge

very friendly and sociable

Wide mouth - big smile

Small chin

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22
Q

You are consulting with a family whose son has been referred due to suspected learning difficulties. Whilst talking to his parents, you observe the son has a bubbly outgoing personality, and contemplate whether this might be a case of William’s syndrome.

What physical feature would most support this diagnosis?

A. Rocker-bottom feet

B. Flattened philtrum

C. Tall, slender stature

D. Webbing of the neck

E. Elfin facies

A

Answer: E, William’s syndrome - associated with elfin facies

23
Q

What conditions are associated with William Syndrome?

A

Supravalvular aortic stenosis

Hypercalcaemia

ADHD

Hypertension

24
Q

What are complications of Fragile X syndrome?

A 
Mitral valve prolapse
Pes planus
Autism
Memory problems
Speech disorders
25
Q

A couple is referred to see their doctor in a family planning clinic as they are looking to have a second child. Their first child died from Tay Sachs disease. After genetic testing, both parents are found to be heterozygous for the condition.

What is the chance their next child will be a carrier of this condition?

A. 0%

B. 25%

C. 50%

D. 50% if female 0% if male

E. 100%

A

C. 50%
For autosomal recessive conditions, if both parents are carriers (heterozygote) there is a 50% chance of having a carrier (heterozygote) child

26
Q

A boy is noted to have a webbed neck and pectus excavatum

A

Noonan syndrome

27
Q

An infant is found to have small eyes and polydactyly

A

Patau syndrome

28
Q

A 7-year-old boy with learning difficulties and macrocephaly

A

fragile X

29
Q

what inheritance is retinoblastoma?

A

autosomal dominant

30
Q

Which of the following conditions is usually inherited in an autosomal dominant fashion?

A. Friedreich’s ataxia

B. Hurler’s syndrome

C. Phenylketonuria

D. Familial adenomatous polyposis

E. Haemochromatosis

A

D. Familial adenomatous polyposis

Autosomal recessive conditions are ‘metabolic’ - exceptions: inherited ataxias

Autosomal dominant conditions are ‘structural’ - exceptions: Gilbert’s, hyperlipidaemia type II

E. Haematochromatosis: autosomal recessive

The following conditions are autosomal dominant:
Achondroplasia
Acute intermittent porphyria
Adult polycystic disease
Antithrombin III deficiency
Ehlers-Danlos syndrome
Familial adenomatous polyposis
Hereditary haemorrhagic telangiectasia
Hereditary spherocytosis
Hereditary non-polyposis colorectal carcinoma
Huntington’s disease
Hyperlipidaemia type II
Hypokalaemic periodic paralysis
Malignant hyperthermia
Marfan’s syndromes
Myotonic dystrophy
Neurofibromatosis
Noonan syndrome
Osteogenesis imperfecta
Peutz-Jeghers syndrome
Retinoblastoma
Romano-Ward syndrome
tuberous sclerosis
Von Hippel-Lindau syndrome
Von Willebrand’s disease*

*type 3 von Willebrand’s disease (most severe form) is inherited as an autosomal recessive trait. Around 80% of patients have type 1 disease

31
Q

You are reviewing the growth of a 4-week-old neonate. She has a length on the 35th percentile, weight on the 42nd percentile and a head circumference on the 4th percentile.

Which of the following is the most likely cause of her microcephaly?

A. Thalassaemia

B. Turner’s syndrome

C. Achondroplasia

D. Foetal alcohol syndrome

E. Cerebral palsy

A

D. Foetal alcohol syndrome

Foetal alcohol syndrome - associated with microcephaly

32
Q

An 8-year-old boy presented with progressive gait disturbance and falls. He was first seen by a paediatric neurologist for unsteady gait and toe walking at the age of 4 years. His gait unsteadiness commenced around the age of 3 years with frequent falls. Tremors in the hands were noted sometime prior to this visit. Gait was wide-based and unsteady. Further detailed examination revealed pes cavus, mild scoliosis, and absence of cardiac murmur.

What is the inheritance pattern of the underlying condition?

A. Autosomal dominant

B. Autosomal recessive

C. Mitochondrial

D. X-lined recessive

E. X-linked dominant

A

B. Autosomal recessive

Friedreich’s ataxia is autosomal recessive

Friedreich’s ataxia is the most common type of hereditary ataxia. Symptoms usually first develop before the age of 25. The condition presents with ataxia, cardiomyopathy, motor weakness, pes cavus foot deformity and scoliosis.

33
Q

Beckwith-Wiedemann syndrome mnemonic

A
34
Q

A 4-year-old girl is regularly seen in clinic due to recurrent chest infections. During her first year of life, she required extensive management for failure to thrive.

A mutation present on which chromosome is responsible for her symptoms?

A

This child shows classical symptoms of Cystic Fibrosis (CF) with recurrent chest infections associated with failure to thrive in infancy. CF is caused by a mutation in the CFTR gene on Chromosome 7 and often manifests in the first year of life with malabsorption and failure to thrive due to pancreatic insufficiency.

The newborn blood spot screening test (Immunoreactive trypsinogen (IRT)) has allowed us to identify affected children before most symptoms are present and to initiate appropriate treatment as soon as possible.

Mutations affect the structure, processing or cellular transport of the CFTR protein (cystic fibrosis transmembrane conductance regulator)

The most common mutation, affecting Delta-F508, results in abnormal glycosylation and subsequent degradation of the CFTR protein before it reaches the cell membrane.

Defects of chloride transport (and therefore water movement by osmosis) across cell membranes cause mucous secretions in different systems to be very thick.

35
Q

what main body systems does CF typically affect?

A

Respiratory system:

Thick mucus in the lungs causes cough, recurrent infections, and bronchiectasis.
Sinusitis and nasal polyps are also very common. Patients usually are colonised with Pseudomonas in the lung by about age 20.

Digestive system:

Reduced pancreatic lipase enzyme secretion inhibits fat absorption, causing steatorrhoea
Poor fat absorption consequently contributes to deficiency of fat-soluble vitamins (A, D, E and K)
These factors contribute to poor weight gain
Damage to the pancreas can also result in patients with cystic fibrosis developing diabetes mellitus & failure to thrive, hypoproteinaemia
-meconium ileus, rectal prolapse

Hepatic:
chronic hepatic disease/cirrhosis

Reproductive system:

Seminiferous tubes also get blocked; most men with cystic fibrosis are unable to conceive naturally (resulting in obstructive azoospermia)
Fertility is also slightly lower than average in women due to thicker cervical mucus.

36
Q

how does CF present in neonates/most common test?

A

-As a neonate, cystic fibrosis may present acutely with meconium ileus.
-This is due to viscous meconium (from thick mucus) that causes a delay in passing meconium and even gastrointestinal obstruction.

-Meconium ileus is diagnosed and treated with a gastrograffin enema.

37
Q

presentation of CF in infants/older children:

A
  1. As an infant, cystic fibrosis may present with parents commenting that the baby’s sweat is very salty - this is noticed when they kiss their baby
  2. Faltering growth
  3. Recurrent chest infections
  4. toddlers: Malabsorption syndromes
  5. older children: delayed onset puberty
38
Q

Definitive diagnosis of CF:

A

Definitive diagnosis is via a sweat test

39
Q

Management of CF:

A

Cystic fibrosis is a chronic disease which requires multidisciplinary team management.

1.. Daily chest physiotherapy techniques are necessary to help clear mucus and prevent pneumonias.
2. Medical management of cystic fibrosis includes prophylactic antibiotics, bronchodilators, and medicines to thin secretions (e.g. dornase alfa).
3.Pancreatic enzyme replacement (creon) and fat-soluble vitamin supplementation (ADEK) are also useful.
4. Patients should also have influenza and pneumococcal vaccines
5. A last-resort for patients with end-stage pulmonary disease in cystic fibrosis may be a bilateral lung transplant.

40
Q

Triad for diagnosis of CF:

A
  1. Typical pulmonary and/or gastrointestinal tract manifestations
  2. A family history
  3. A positive result on ‘sweat-test’ (based on Cl-ion concentration)
41
Q

what does pilocarpine-iontophoresis sweat-test involve:

A

Involves pharmacological stimulation of sweating with pilocarpine; the amount of sweat is measured and its Cl concentration is determined. In patients with a suggestive clinical picture or a positive family history, a Cl concentration > 60 mmol/L confirms the diagnosis. In infants, a Cl concentration > 30 mmol/L is highly suggestive of CF. A minimum sweat-weight of 100 micrograms is also required.

42
Q

respiratory pathogens involvement in CF:

A

Early in the course, Staphylococcus aureus is the pathogen most often isolated from the respiratory tract, but as the disease progresses, Pseudomonas aeruginosa is most frequently isolated. A mucoid variant of Pseudomonas is uniquely associated with CF.

Colonization with Burkholderia cepacia occurs in up to 7% of adult patients and may be associated with rapid pulmonary deterioration. I

n spite of the large number of organisms present in the airways and sputum, CF patients rarely become septic and blood cultures are not helpful. It is an airway colonization process and not a pneumonic one.

43
Q

Chest Xray findings in CF:

A
  1. hyperinflation
  2. bronchiectasis
  3. lobar atelectasis
  4. large hila

Chest radiographs may initially be normal, however over time they typically show bronchial wall thickening and bronchiectasis.

Progressive air-trapping with bronchiectasis may be initially apparent in the upper lobes but may progress to all zones.

With advancing pulmonary disease there may be pulmonary nodules resulting from abscesses and atelectasis and marked hyperinflation with flattened domes of the diaphragm.

Pulmonary artery dilatation and right ventricular hypertrophy associated with cor-pulmonale is usually masked by the hyperinflation.

44
Q

life expectancy of a newly diagnosed CF patient:

A

50-55yrs

Preventive stragies with regard to infection, vigorous regular chest physiotherapy, and periodic intensive antibiotic therapy have helped the survival and improved quality of life.

The use of nebulized rhDNase (Pulmozyme) can decrease the viscosity of CF mucus by aiding removal of excessive DNA from inflammatory cells destroyed in airways.

45
Q

what conditions are associated with the Ashkenazi Jewish population?

A

Tay Sachs disease within the Ashkenazi Jewish population is often used as an example but in fact Gaucher’s Disease is more prevalent.

Tay-Sachs disease is part of a group of genetic disorders called the GM2 gangliosidoses. Affected children appear to develop without a problem until about 6 months of age and then begin to show neurological symptoms, including: Slowing of development. Progressive loss of mental ability

Gaucher’s disease: a lysosomal storage disorder.When you have Gaucher disease, you are missing an enzyme that breaks down fatty substances called lipids. Lipids start to build up in certain organs such as your spleen and liver.

46
Q

Pierre Robin sequence triad & presentation:

A

Triad of:
1. micrognathia (small jaw)
2. glossoptosis: Posterior displacement of the tongue into the pharynx
3. airway obstruction

47
Q

Karyotype of Down’s syndrome:

A

47,XX,+21 or 47,XY,+21

48
Q

commonest cause of down’s syndrome:

A

approximately 95% of cases result from chromosomal non-disjunction of chromosome 21

49
Q

karyotypes of Klinefelter syndrome:

A

47,XXY, but chromosome mosaics with 46,XY/47,XXY and complements with multiple X chromosomes like 48,XXXY are known

50
Q

commonest karyotype of Turner’s syndrome;

A

45XO

51
Q

what is faecal elastase used to assess?

A

The determination of faecal elastase 1 concentration is a simple means of assessing exocrine pancreatic function in children with cystic fibrosis. It is a rapid and reliable option to qualitatively evaluate pancreatic function in a diagnosed case of cystic fibrosis.

52
Q

when is the heel prick test usually performed?

A

fifth day after birth

53
Q

what genetic conditions does heel prick test identify:

A

It helps in identifying any of the nine rare conditions: cystic fibrosis; congenital hypothyroidism; phenylketonuria; classical galactosaemia; glutaric aciduria type 1; medium-chain acyl-CoA dehydrogenase deficiency; homocystinuria; maple syrup urine disease; and adenosine deaminase deficiency severe combined immunodeficiency.

Zero to finals Paediatrics Marina (18 decks)

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