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MRCP 1 > Genetics > Flashcards

Genetics Flashcards

1
Q

Deep creases in palm and sole + developmental delay + mild dysmorphic features (deep set eyes and an everted lower lip) what mutation?

A

Mosiac trisomy 8

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2
Q

Features of tetrasomy 12p?

A

AKA Pallister-Killian Syndrome
Normal blood karyotype.
Coarse facial features and bitemopral sparsity of hair
Severe developmental delay

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3
Q

Karyotype of Klinefelter syndrome

A

47XXY

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4
Q

Patient with Klinefelter syndrome are at increased risk of what diseases

A

Pulmonary disease
Varicose veins
Breast cancer, leukaemia and mediastinal germ cell tumors

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5
Q

McCune-Albright syndrome is associated with learning difficulty T/F

A

F

Note: it is assoc with cafe-au-lait macules, precocious puberty and polyostotic fibrous dysplasia

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6
Q

Features of Cowden syndrome?

A

Autosomal dominant
Macrocephaly
Variable developmental delay
Increased risk of breast, thryoid and endometrium tumors and skin lesions (including papillomas and facial trichilemmomas)

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7
Q

Mutation associated with cowden syndrome

A

PTEN gene (AD inheritance)

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8
Q

NSD1 gene or 5q35 deletion, what genetic disoder?

A

Soto syndomre

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9
Q

Soto syndrome is associated with what abnormalities?

A

Macrocephaly + large feet and hands + prominent forehead, down slanting palpebral fissues, prominent jaw and high and narrow palate
Seizures
Mild ventricular dilatation

Note: facial features - prominent forehead, down slanting palpebral fissures, prominent jaw and high, narrow palate

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10
Q

Soto syndrome is mostly due to de novo gene mutations T/F

A

True

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11
Q

GPC 3 gene mutation, what syndrome?

A

Simpson-Golab - Behmel syndome

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12
Q

Simpson-Golab-Behmel syndrome is X-linked recessive T/F

A

True

Note: carrier females can have subtle facial manifestations including a large mouth, pointed chin or coccygeal appendage

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13
Q

What is the most common form of inherited congenital deafness?

A

Pendred’s syndrome

Note: AR inheritence; presents with simple goitre and mild hypothyroidism; deafness is sensorineural

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14
Q

Clinical features of glutaric aciduria type 1

A 
Choreiform and dystonic movements
Normal eye exam
Macrocephaly 
Developmental delay
Often presents after a minor illness as the body is working at a higher rate of metabolism which unmasks the deficiency
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15
Q

Canavan’s disease eye findings

A

Optic atrophy

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16
Q

Alexander disease is associated with hypotonia T/F

A

F - it is assoc with stiff limbs

Note: rare demyelinating leukodystrophy, presents around 2 yrs old with progressive macrocephaly, seizures, stiff limbs and ataxia

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17
Q

Eye findings in mucopolysaccharidosis?

A 
Corneal clouding 
(except Hunter syndrome)
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18
Q

Eye findings in GM2 gangliosidosis?

A

Cherry red spot

Tay–Sachs and Sandhoff disease

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19
Q

What may be seen on a CT brain of a patient with glutaric aciduria type 1?

A

Subdural effusion

Note: subdural effusion is also a common complication of streptococcal meningitis

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20
Q

Are carnitine levels high or low in carnitine transporter defect?

A

Very low - as carnitine is not taken up by the cells and hence it is lost in the urine.
Hence diagnosis is confirmed by high fractional excretion of carnitine
Note: also associated with cardiomegaly; carnitine is essential for long chain FA oxidation and FA are the preferred fuel source for the heart

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21
Q

In antenatal screening T21 is a cause of elevated alpha fetoprotein T/F

A

F - T21 is a cause of REDUCED AFP

Causes of elevated AFP - liver necrosis, anencephaly, spina bifida, sacrococcygeal teratoma

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22
Q

How does arginase deficiency commonly present?

Lab abnormality?

A

Spastic diplegia and subsequently seizures, ataxia and dystonia
Increased arginine and ammonia

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23
Q

Male with short stature, webbed neck, hypertelorism, downslanting palpebral issues has what syndrome

A

Noonan syndrome (“male Turner syndrome”)

Other features: skeletal defects, cryptorchidism, bleeding diathesis, card abnormality

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24
Q

What is the most common cardiac abnormality with Noonan syndrome?

A

Pulmonary stenosis and hypertrophic cardiomyopathy

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25
Q

What is the cardiac abnormality in Turner syndrome

A

Coarctation of aorta and bicuspid aortic valve

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26
Q

Cardiac abnormality in Alagille syndome

A

Peripheral pulmonary artery stenosis (up to 90%)

Tetrology of fallot

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27
Q

Cardiac abnormality in William syndrome

A

Supravalve aortic stenosis

Overly friendly

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28
Q

What is the most common form of inherted mental retardation affecting boys?

A

Fragile X syndrome

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29
Q

Female carries of Fragile X syndrome are usually of normal intelligence but may have what?

A

Premature menopause

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30
Q

What is the gene involved in fragile X

A

FMR1 gene on x chr; caused by expansion triplet repeats

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31
Q

Mutation in HERG is assoc with what cardiac abnormality

A

Long QT syndrome

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32
Q

Deletion of 22q11.2 is common in may congenital cardiac diseases including DiGeorge syndrome. What other ones

A

Tet of Fallot
Common arterial trunk
Familial VSD

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33
Q

Cystinosis causes what acid base abnormality?

A

Hyperchloraemic acidosis

Also rickets
It is AR

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34
Q

Inheritance of fabry’s disease and broad category of pathology

A

X linked recessive

Lysosomal storage

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35
Q

Fabry’s disease what cardiac pathology

A

Mitral valve prolapse

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36
Q

Clinical features of Fabry disease

A

Neuro: neuropathic pain; decreased ability to sweat; cloudiness of eye, hearing loss
Card: MVP
Derm: dark red spots on the skin called angiokeratomas

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37
Q

Characteristic lab abnormality in MCADD

A

Hypoketotic hypoglycaemia

Note: this is a fatty acid oxidation defect –> not able to make ketones; mgmt avoid prolonged fasting and glucose supplementation during illness
Other presentations: lethargy, seizure, coma, acute hepatic failure

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38
Q

MECP2 mutation, what disease?

A

Rett Syndrome

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39
Q

SNRPN mutation, what disease?

A

Prader Willi

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40
Q

UBE3A mutation, what disease?

A

Angelman Syndrome

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41
Q

In a pt with pendred syndrome what would you expect to see on imaging of middle/internal ear?

A

Bilateral dilation of vestibular aquaducts

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42
Q

Inheritance of Marfan’s syndrome

A

Autosomal dominant

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43
Q

Helpful way to distinguish AD vs X linked AD in pedigree chart?

A

A male with the disease - all daughters will be affected but no males will be

Examples of x linked dominant: Rhett syndrome (although sporadic 99%), Alport syndrome, fragile X, X linked hypophosphataemia, incontinentia pigmenti

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44
Q

Incidence of PKU

A

1 in 10,000 live births

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45
Q

Abnormality on chr11p15 is assoc with what syndrome?

A

Beckwith Wiedemann syndrome

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46
Q

Beckwith Wiedemann is assoc with risk of what malignancy?

A

Wilms tumor
Hepatoblastoma

Note: surveillance
AFP every 2-3 weeks until 4 yrs old + abdo USS every 3 months until age of 8

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47
Q

What is Williams syndrome also known as?

A

Idiopathic infantile hypercalcaemia

Note: mutation on chr 7

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48
Q

What is the aetiology of Smith-Lemli-Opitz syndrome

A

Inability to break down cholesterol due to def in cholesterol reductase. This lead to a low cholesterol level, tx is with a high cholesterol diet

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49
Q

Maternal uniparental disomy of chr 15 what syndrome?

A

Prader Wili

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50
Q

Paternal uniparental disomy of chr 15 what syndrome?

A

Angelman’s syndrome

Both copys inherited from father

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51
Q

HLA A3 is associated with what disease?

A

Haemochromotosis

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52
Q

HLA Cw6 is associated with what disease?

A

Psoriasis

53
Q

HLA B5 is associated with what disease?

A

Bechet’s syndrome, polycystic kidney disease, ulcerative colitis

54
Q

HLA DR2 is associated with what disease?

A

MS and goodpastures syndrome

55
Q

HLA DR3 is associated with what disease?

A

Addison’s disease, Sjogren disease , Graves disease, diabetes mellitus

56
Q

HLA DR4 is associated with what disease?

A

Rheumatoid arthritis and diabetes mellitus

57
Q

Phenylketonuria leads to low phenylalanine serum T/F

A

F

Due to a def of phenylalanine hydroxylase, hence unable to convert phenylalanine to tyrosine

58
Q

Patients with phenylketonuria have fair skin T/F

A

T “dilute pigmentation” due to inadequate melanisation

Other features - low IQ, poor head growth, seizures and eczema-like rash.

59
Q

MSK abnormalities with Alagille syndrome

A

Most common: butterfly vertebrae

Less common: Radio-ulnar synostosis and short phalanges

Note: also cholestasis, congenital heart disease (commonly pulmonary valve), anterior segment abnormalities (mainly posterior embryotoxon)

60
Q

Presentation of ornithine aminotransferase deficiency?

A

Worsening myopia and night vision

Affects the retina and the choroid

61
Q

Most males foetuses with incontinentia pigmenti will result in miscarriage. T/F

A

T

62
Q

NLG3 is associated with what?

A

Non syndromic autism

63
Q

Triple X syndrome is associated with problems of gonadal determination and sexual differentiation T/F

A

False - this is due to lyonisation/inactivation of the extra X. Hence phenotypically normal.

Note: features are delays in language, gross motor and auditory processing; learning difficulty, EEG abnormalities. Can have premature ovarian failure but normal fertility is usually present

64
Q

In a pt with Down syndrome and other family members with DS such as first cousins what is the likely cause?

A

Unbalanced Robertsonian Translocation

Note: this is known as translocation down syndrome, as opposed to T21. A balanced translocation will not result in down syndrome

65
Q

What is the inheritance of Hunter syndrome?

A

X linked recessive

Note: most other mucopolysaccharidoses are autosomal recessive

66
Q

What is the inheritance of hereditary spherocytosis

A

Autosomal dominant

67
Q

What is the inheritance of Vit D resistant rickets?

A

X linked dominant

68
Q

Galastosaemia can lead to precocious puberty T/F

A

F - it can lead to delayed puberty in females due to ovaries not producing enough oestrogen

69
Q

There is an increasing incidence of Turners syndrome in with increasing maternal age T/F

A

F

70
Q

Anosmia, early onset retinitis pigmentosa (night blindness), chronic axatia, variable neuropathy, deafness and pruritus what disease?

A

Refsum’s disease (a peroxisomal disorder)

71
Q

What does VACTERL stand for?

A 
Vertebral
Anorectal
Cardiac
Tracheo-esophageal
Renal/radial
Limb
72
Q

Characteristic “aged” appearance with deep set eyes and significant ocular manifestations (cataracts, optic atrophy and pigmentary retinopathy) what syndrome?

A

Cockayne syndrome

Note: also have significant post natal growth failure and progressive neuro dysfunction.

73
Q

Triangular face with blue sclera, small body but normal head circumference, 5th finger clinodactyly and cafe au lait spots and increased sweating. What syndrome

A

Russell silver syndrome

74
Q

Features of Holt Oram syndrome?

A

Upper limb abnormalities and congenital heart disease (mainly ASD and VSD)

Main Ddx TAR syndrome but no cardiac issues in TAR

75
Q

What are the 3 cardinal features of Bloom syndrome?

A

Photosensitivity
Telangiectatic erythema of face
Stunted growth

Note: can also have recurrent infections and predisposition to malignancy and dysmorphic features

76
Q

What is the pathology of Bloom syndrome?

A

AR inheritance and caused by a DNA repair defect

77
Q

DDx of hypoketotic hypoglycaemia

A
  • Hyperinsulinism
  • Fat oxidation defects such as MCADD
  • Liver failure (site of fat oxidation)
  • Some mitochondrial disorders
78
Q

Autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, which leads to a decrease in phagocytosis. What disease?

A

Chediak Higashi syndrome

79
Q

Axatia, seizures, muscle weakness, recurrent infections and albinism what disease?

A

Chediak Higashi syndrome

Note: also have ocular symptoms, secondary to oculocutaneous albinism include nystagmus, photophobia and increased red reflex

80
Q

Self mutilation what genetic disorder?

A

Lesch Nyhan

81
Q

What is the most specific diagnostic test for galactosaemia?

A

Reduced or absent GALT enzyme (galactose-1-phosphate uridyltransferase)

82
Q

The presence of succinylacetone in urine is pathognomonic of what?

A

Classical/type 1 tyrosinaemia

Note: leads to progressive liver failure, neuro disease and renal tubular acidosis

83
Q

When does hereditary fructose intolerance typically present? What is it caused by?

A

Does not present until infant starts weaning onto foods from breastmilk/formula

Cause: deficiency of aldolase B

Note: formula used to be sweetened and so it used to present earlier. Leads to a build up of fructose 1 phosphate

84
Q

Clinical and exam features of hereditary fructose intolerance?

A

Infants will vomit and prove difficult to wean

Hepatomegaly and deteriorating liver function/failure , marked acidosis and hypoglycaemia

85
Q

What is the inheritance of Rhett syndrome?

A

Sporadic in 99% of cases

Although it is on the X Chr and fxns in a dominant manner –> it can be maternally inherited in the few cases where familial cases have occurred. It is lethal in males so fathers cannot be carriers

86
Q

Mutations in the gene FGFR3 what disease?

A

Achondroplasia

Note: 2 specific mutations found to cause over 98% of this disease

87
Q

Features of Zellweger syndrome in an infant?

A

Hypotonia, apnea, seizures and craniofacial abnormalities

88
Q

Anosmia, obesity and hypothalamic hypogonadism what pathology and inheritance?

A

Kallmann syndrome (X linked recessive)

89
Q

What is the mainstay of treatment of Kallmann syndrome?

A

HCG or testosterone

90
Q

What is the typical inheritance of William syndrome?

A

Typically sporadic

91
Q

LCHAD (long chain hydroxy acyl-CoA dehydrogenase) deficiency is associated with what eye abnormality?

A

Pigmentary retinopathy

92
Q

What is the inheritance of SMA?

A

Autosomal recessive

93
Q

Mutation in KCNQ1 is associated with that syndrome?

A

Long QT syndrome

94
Q

The mutation in Williams syndrome is on what Chr?

A

Chr 7 (del)

95
Q

Typical features of Niemann Pick disease?

A

Ataxia and developmental regression
Hepatomegaly
Cherry red spots on fundoscopy

96
Q

How does biotinidase deficiency typically present in infancy?

A

Progressive neuro symptoms esp hearing and vision

Rash with or with out hair loss

97
Q

What is Lesch-Nyhan commonly misdiagnosed as?

A

Cerebral palsy - due to hypotonia and developmental delay which later evolves in spasticity and a choreiform movement disorder. Later the aggression towards themselves and others provided a clue to diagnosis

98
Q

Deficiency of hypoxanthine guanine phosphoribosyltransferase what disease? What lab abnormality?

A

Lesch-Nyhan

Elevated uric acid but sometimes it is at the upper limit of normal as it is being excreted in the urine

99
Q

What does VACTERL association stand for?

A 
Vertebral anomalies
Anal atresia
Cardiac defects
Tracheo- oesophageal fistula and/or Esophageal atresia
Renal anomalies
Limb (radial) anomalies
100
Q

Rocker bottom feet, what pathology and other clinical features?

A

T18/Edward syndrome - cardiac defects ASD, VSD or PDA; multiple large choroid plexus cysts, overlapping digits

101
Q

Features of CHARGE syndrome

A 
Coloboma
Heart defects
Atresia choanae 
(also known as choanal atresia)
Growth retardation/ genital abnormalities
Ear abnormalities

NB absent and/or hypo plastic semi-circular canals on internal ear imaging in 95% - appearance of the external ear is often characteristic too with a rather triangular concha

102
Q

What is the inheritance of Tay Sachs

A

Autosomal recessive

103
Q

Hereditary haemochromatosis is on what chromosome?

A

Chr 6 (HFE gene)

104
Q

Difference in inheritance of mtDNA point mutations vs mtDNA large segment duplications or deletions?

A

mtDNA point mutations - inherited from mother, only female can pass it on but males or females can be effected
mtDNA large segment - tend to be sporadic mutations

105
Q

Edward syndrome which trisomy?

A

18

106
Q

Patau syndrome which trisomy?

A

13

107
Q

Cutis aplasia is a feature of Edward or Patau syndrome?

A

Patau (13)

108
Q

Typical facial features of Simpson Golabi Behmel syndrome

A

Macrocephaly coarse facial features and down slanting palpebral fissues in males

Female carriers can have more subtle features

109
Q

Vertical supranuclear gaze palsy is a typical finding in what genetic disease? What other ophthalmic finding may be present?

A

Niemann Pick disease type C
Cherry red spot

It can manifest as uncertainty walking down stairs.

110
Q

If a parent has isochromosome 21 what is the risk of the child having trisomy 21?

A

100%

111
Q

Elevated urinary glycosaminoglycans in what pathology

A

Mucopolysaccharidoses

112
Q

Lab to investigate for Refsum’s disease?

A

Plasma phytanic acid

Note: it is a fatty acid oxidation disorder

113
Q

Laurence Moon Biedl syndrome is associated with failure to thrive T/F

A

F - it is associated with obesity

114
Q

Laurence Moon Biedl syndrome is associated with obesity T/F

A

T

115
Q

A patient with obesity, hypothalamus abnormalities (central DI and hypogonadism) and night blindness/retinitis pigmentosa

A

Laurence Moon Biedl syndrome

Note: can also have polydactyl

116
Q

Typical features of Beckwith Wiedemann

A

Macrosomia and macroglossia, asymmetric limb growth , abdominal wall defects and increased malignancy risk ( Wilms > Hepatoblastoma)

117
Q

Typical facies of Lysch Nyhan?

A

None, these patients are not dysmorphic

118
Q

What are 2 features on history that can help differentiate Noonan syndrome from Turner?

A

Noonan : hx of poor feeding as infant and bleeding tendency

119
Q

Investigation to diagnose fanconi’s anaemia?

A

Chromosome breakage studies

120
Q

A non dysmorphic neonate with normal acid base balance who was very active in utero develops neonatal encephalopathy with myclonic jerks and hiccups. Diagnosis?

A

Non ketotic hyperglycinaemia

Note: diagnosis is made by elevated glycine in plasma or CSF. Myoclonic jerks may not be prominent but EEG will show a burst suppression appearance. The increased fetal movements are seizure

121
Q

A child with pulmonary stenosis, dysmorphic features and areas of skin thickening with hyperkeratosis. What pathology?

A

Cardio facio cutaneous syndrome

122
Q

What type of immune deficiency is Kostmann syndrome?

A

A severe congenital neutropenia

123
Q

Mutation in fibrillin 1 gene what pathology?

A

Marfan’s

124
Q

What is the management of Jeune syndrome?

A

Usually require intubation and ventilation at birth until they grow or have insertion of cartilage in their sternum.

AKA asphyxiating thoracic dystrophy

125
Q

Features of Jeune syndrome

A

AKA asphyxiating thoracic dystrophy

Lung hypoplasia, poor cartilage development, renal abnormalities such as cystic kidneys

126
Q

1st line genetic testing for patient with global developmental delay with no obvious aetiology for history or exam?

A

CMA

127
Q

Lab abnormalities in Leigh syndrome

A

Elevated lactate, pyruvate and alanine

128
Q

Ambigious genitalia, nephropathy and bilateral Wilms tumors what syndrome?

A

Drash syndrome

MRCP 1 (21 decks)

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