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Phase 3a medicine > Paediatric - Genetics > Flashcards

Paediatric - Genetics Flashcards

1
Q

Prader-Willi syndrome is caused by Maternal disomy or deletion in which paternally inherited chromosome?

A

Chromosome 15

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2
Q

Angelman’s syndrome is caused by paternal disomy or deletion in which maternally inherited chromosome?

A

Chromosome 15

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3
Q

Name a congenital mitochondrial disorder

A
  • MELAS (Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes)
  • MERRF (Myoclonic epilepsy with ragged-red fibers) DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness)
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4
Q

Name a condition which follows an autosomal dominant inheritance pattern

A

Noonan; Marfan syndrome; Huntington’s; Adult Polycystic Kidney Disease; Familial hypercholesterolaemia; Breast/ovarian cancer

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5
Q

Name a condition which follows an autosomal recessive inheritance pattern

A

CF; Haemochromatosis; Phenylketonuria; Spinal muscular atrophy

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6
Q

Name a condition which follows an X-linked inheritance pattern

A

Duchenne muscular dystrophy; Fragile X syndrome; Retinitis Pigmentosa

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7
Q

What inheritance pattern does Cystic Fibrosis follow?

A

Autosomal recessive

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8
Q

Cystic Fibrosis is caused by mutations in what gene on which chromosome?

A

CF Transmembrane Conductance Regulator (CFTR) gene on chromosome 7

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9
Q

Name a diagnostic test for Cystic Fibrosis

A

Sweat test, Molecular genetic testing for CFTR gene

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10
Q

Those affected by Klinefelter’s Syndrome have an extra … in some or all of their body’s cells

A

X chromosome

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11
Q

Name 3 clinical features of Klinefelter’s Syndrome

A

Infertility, small firm testes, decreased facial and pubic hair, loss of libido, impotence, Tall and slender, with long legs, narrow shoulders and wide hips, gynaecomastia, learning disability

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12
Q

How might XXY males be diagnosed before birth?

A

Amniocentesis or chorionic villus sampling

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13
Q

Name a syndrome associated with hearing loss in children

A

Usher’s syndrome; Wardenberg’s syndrome; Treacher Collins; Pendred syndrome; Alport syndrome

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14
Q

What is a potential complication of Fragile X syndrome?

A

Mitral Valve Prolapse

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15
Q

Patau syndrome affects which chromosome?

A

13

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16
Q

Turner’s syndrome is associated with which murmur due to what?

A

Ejection Systolic murmur due to bicuspid aortic valve

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17
Q

Which of the following conditions is associated with Down’s syndrome?
T2DM / ADHD / Hyperthyoirdism / Breast Cancer / Hypothyroidism

A

Hypothyroidism

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18
Q

Which of the following is someone with Turner’s most likely to have?

  • Mitral Regurgitation
  • Hypertrophic cardiomyopathy
  • Pulmonary stenosis
  • Aortic coarctation
  • Atrial Septal defect
A

Aortic coarctation

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19
Q

Features of Turner’s syndrome

A
  • short stature
  • shield chest, widely spaced nipples
  • webbed neck
  • bicuspid aortic valve (15%), coarctation of the aorta (5-10%)
  • primary amenorrhoea
  • cystic hygroma (often diagnosed prenatally)
  • high-arched palate
  • short fourth metacarpal
  • multiple pigmented naevi
  • lymphoedema in neonates (especially feet)
  • gonadotrophin levels will be elevated
  • hypothyroidism is much more common in Turner’s
  • horseshoe kidney: the most common renal abnormality in Turner’s syndrome
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20
Q

In X-linked recessive inheritance:

  1. ) Each male child of a heterozygous female carrier has what chance of being affected?
  2. ) Each female child of a heterozygous female carrier has what chance of being a carrier.
A

50% chance of being affected

50% chance of being a carrier.

21
Q

most common cardiac defect in Turner’s?

A

bicuspid aortic valve (more common than coarctation of the aorta)

22
Q

What is Anticipation in trinucleotide repeat disorders?

A

earlier age of onset in successive generations

23
Q

elongated face and protruding ears?

A

Fragile X

24
Q

Features of Klinefelter Syndrome

A
  • Taller height
  • Wider hips
  • Gynaecomastia
  • Weaker muscles
  • Small testicles
  • Reduced libido
  • Shyness
  • Infertility
  • Subtle learning difficulties (particularly affecting speech and language)
25
Q

Features of Down’s Syndrome

A 
Hypotonia (reduced muscle tone)
Brachycephaly (small head with a flat back)
Short neck
Short stature
Flattened face and nose
Prominent epicanthic folds
Upward sloping palpable fissures
Single palmar crease
26
Q

When are women offered screening for Down’s syndrome in their pregnancy?

A

A screening test for Down’s syndrome, Edwards’ syndrome and Patau’s syndrome is available between weeks 10 and 14 of pregnancy.

27
Q

What hormones/proteins does the triple test at 14-20 weeks gestation test for?

A
  • Beta-HCG. A higher result indicates greater risk of Down’s
  • Alpha-fetoprotein (AFP). A lower result indicates a greater risk of Down’s
  • Serum oestriol (female sex hormone). A lower result indicates a greater risk of Down’s
28
Q

Out of amniocentesis and Chorionic Villus Sampling, which is done before and which is done after 15 weeks?

A

CVS before 15 wks

Amniocentesis after 15 weeks

29
Q

Edward’s Syndrome is also known as what?

A

Trisomy 18

30
Q

How many babies with Edward’s syndrome live past their first birthday?

A

13%

31
Q

Patau syndrome is also known as what?

A

Trisomy 13

32
Q

Features of Patau’s Syndrome

A
  • Many fetuses never survive until term and are stillborn or spontaneously abort. Features include:
  • Intrauterine growth restriction and low birth weight.
  • Congenital heart defects: these occur in 80%; they include atrial septal defect, ventricular septal defect, patent ductus arteriosus, dextrocardia.
  • Holoprosencephaly: the brain doesn’t divide into two halves; this can present with midline facial defects including:
  • Cleft lip and palate.
  • Microphthalmia or anophthalmia.
  • Nasal malformation.
  • Hypotelorism (reduced distance between the eyes) or cyclops.
  • Other brain and central nervous system abnormalities, including:
  • Neural tube defects.
  • Other anatomical defects of the brain
  • Severe learning disability.
  • Microcephaly.
  • Scalp defects (cutis aplasia: skin missing from the scalp).
  • Ear malformations and deafness.
  • Capillary haemangiomata.
  • Gastrointestinal abnormalities: omphalocele, exomphalos, hernias.
  • Urogenital malformations: polycystic kidneys, micropenis or hypertrophy of the clitoris.
  • Abnormalities of hands and feet: polydactyly (extra fingers or toes), small hyperconvex nails and rocker-bottom feet
33
Q

Fragile X syndrome is caused by mutation of what gene?

A

FMR1 (fragile X mental retardation 1) gene on the X chromosome

34
Q

Fragile X features

A
  • Intellectual disability
  • Long, narrow face
  • Large ears
  • Large testicles after puberty
  • Hypermobile joints (particularly in the hands)
  • Attention deficit hyperactivity disorder (ADHD)
  • Autism
  • Seizures
35
Q

What inheritance pattern is Cystic Fibrosis?

A

Autosomal Recessive

36
Q

Features of Cystic Fibrosis in perinatal, childhood and adulthood

A

Perinatal:

  • Bowel obstruction with meconium ileus (bowel atresia).
  • Haemorrhagic disease of the newborn.
  • Prolonged jaundice.

Childhood:

  • Recurrent respiratory infections.
  • Chronic pulmonary disease.
  • Diarrhoea.
  • Failure to thrive (thriving does not exclude diagnosis).
  • Rectal prolapse.
  • Nasal polyps (in children, nearly always due to CF).
  • Acute pancreatitis.
  • Portal hypertension and variceal haemorrhage.
  • Pseudo-Bartter’s syndrome, electrolyte abnormality.
  • Hypoproteinaemia and oedema.

Adult:

  • Recurrent respiratory infections.
  • Atypical asthma.
  • Bronchiectasis.
  • Chronic pulmonary disease.
  • Chronic sinus disease.
  • Male infertility with congenital bilateral absence of the vas deferens.
  • Heat exhaustion/electrolyte disturbance.
  • Portal hypertension and variceal haemorrhage.
37
Q

Angelman syndrome is a genetic condition caused by loss of function of what gene?

A

UBE3A gene (chromosome 15)

38
Q

Features of Angelman Syndrome

A
  • Delayed development and learning disability
  • Severe delay or absence of speech development
  • Coordination and balance problems (ataxia)
  • Fascination with water
  • Happy demeanour
  • Inappropriate laughter
  • Hand flapping
  • Abnormal sleep patterns
  • Epilepsy
  • Attention-deficit hyperactivity disorder
  • Dysmorphic features
  • Microcephaly
  • Fair skin, light hair and blue eyes
  • Wide mouth with widely spaced teeth

TIP: The features to remember and link with Angelman syndrome so you can spot it in your exams is the unusual fascination with water, happy demeanour and widely spaced teeth.

39
Q

Features of Prader Willi

A
  • Constant insatiable hunger that leads to obesity
  • Poor muscle tone as an infant (hypotonia)
  • Mild-moderate learning disability
  • Hypogonadism
  • Fairer, soft skin that is prone to bruising
  • Mental health problems, particularly anxiety
  • Dysmorphic features
  • Narrow forehead
  • Almond shaped eyes
  • Strabismus
  • Thin upper lip
  • Downturned mouth

TIP: The key feature everyone remembers for Prader-Willi syndrome is the the insatiable hunger. Feeding can often be a challenge initially due to hypotonia but later food seeking and excessive eating occur. It is worth remembering some other key facts about the condition, such as the treatment with growth hormone and the poor muscle tone, so that you know more than just the link with appetite.

40
Q

What can be used to improve muscle development and body composition in Prader-Willi syndrome?

A

Growth Hormone

41
Q

What inheritance pattern is Noonan Syndrome?

A

Autosomal dominant

42
Q

Features of Noonan Syndrome

A
  • Short stature
  • Broad forehead
  • Downward sloping eyes with ptosis
  • Hypertelorism (wide space between the eyes)
  • Prominent nasolabial folds
  • Low set ears
  • Webbed neck
  • Widely spaced nipples
43
Q

Associated conditions for Noonan syndrome

A
  • Congenital heart disease, particularly pulmonary valve stenosis, hypertrophic cardiomyopathy and ASD
  • Cryptorchidism (undescended testes) can lead to infertility. Fertility is normal in women.
  • Learning disability
  • Bleeding disorders
  • Lymphoedema
  • Increased risk of leukaemia and neuroblastoma
44
Q

William’s Syndrome is caused by a deletion on which chromosome?

A

7

45
Q

Features of William’s Syndrome

A
  • Broad forehead
  • Starburst eyes (a star-like pattern on the iris)
  • Flattened nasal bridge
  • Long philtrum
  • Wide mouth with widely spaced teeth
  • Small chin
  • Very sociable trusting personality
  • Mild learning disability

TIP: The distinctive features to remember with William syndrome are the very sociable personality, the starburst eyes and the wide mouth with a big smile. It is worth remembering the association with supravalvular aortic stenosis and hypercalcaemia, as these are unique features that are easy to test in exams.

46
Q

William’s Syndrome associated conditions

A
  • Supravalvular aortic stenosis (narrowing just above the aortic valve)
  • Attention-deficit hyperactivity disorder
  • Hypertension
  • Hypercalcaemia
47
Q

A baby is born with micrognathia, low-set ears, rocker bottom feet and overlapping of fingers
Dx?

A

Edward’s

48
Q

Meconium ileus is a common neonatal feature of what condition?

A

Cystic Fibrosis

Phase 3a medicine (24 decks)

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