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Paeds Exam Cram > Genetics > Flashcards

Genetics Flashcards

1
Q

NF1

A 
Autosomal dominant
Chr17 (50% sporadic)
>6 cafe au lait
>2 lisch nodules
Axillary freckling
Optic glioma
>2 neurofibroma/1 plexiform neurofibroma
Osseous lesion
First degree relative
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2
Q

NF2

A 
Autosomal dominant
Chr22 (50% sporadic)
Bilateral acoustic neuroma
Family history
Cataracts
Meningiomas
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3
Q

Tuberous sclerosis

A 
Autosomal dominant
TS1, TS2 (75% sporadic)
>3 Ash leaf lesions
Infantile spasms
Tubers in brain
Giant cell astrocytoma
Facial adenoma sebaceum
Pitted teeth
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4
Q

Williams

A 
Autosomal dominant
7q11 deletion ELN
Hypercalcaemia
Small
FTT
Bright blue eyes - stellate iris
Supravalvular aortic stenosis
Peripheral pulmonary stenosis
Cocktail personality
Intellectual disability
Developmental delay
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5
Q

ELN point mutation only

A

Autosomal dominant

Supravalvular AS only

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6
Q

Alagille

A 
Autosomal dominant
JAG1, NOTCH2
Short, triangular face
Butterfly vertebrae
Pulmonary stenosis
Conjugated jaundice, paucity of bile ducts
Moya Moya
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7
Q

Bracho-Oto-Renal

A 
Autosomal dominal
EYA1
Sinus/cyst near sternocleidomastoid
Deafness/periauricular tags
Renal malformations
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8
Q

Marfan

A 
Autosomal dominant
FBN1 Ch15
Very tall, arm span > height
Ectopic tennis (upward dislocation of lens)
Aortic aneurysms
MV prolapse
Learning
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9
Q

Ehlers Danlos

A 
Autosomal dominant
COL5A
Tall, easy bleeding
Joint dislocations
Berry aortic aneurysms
Aortic root dilation
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10
Q

Osteogenesis imperfecta

A 
Autosomal dominant
COL1A1, COL1A2
High ALP, hypercalciuria
Short stature
Blue sclera
Hearing loss
Opalescent teeth

Type 1 mild
Type2 lethal
Type 3 progressiove
Type 4 moderate

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11
Q

Stickler syndrome

A 
Autosomal dominant
COL2A1
Cleft palate
Pierre Robin
MV prolapse
SNHL
Hypermobilitiy
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12
Q

Diamond Blackfan Anaemia

A 
Autosomal dominant
Triphalyngeal thumb (long thumb that looks like finger)
Absent thumb
Cataracts
Complication - AML
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13
Q

Von Hippel Lindau

A

Autosomal dominant
VHL Ch3
Multiple tumours - renal*, pancreas, phaeochromocytoma
Haemangioblastomas

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14
Q

Cornelia De Lange

A 
Autosomal dominant
NIPBL, SMC1A (most sporadic)
Monobrow
Hirsutism
Short
Small upturned nose
ASD/VSD
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15
Q

Waardenburg

A

Autosomal dominant
White forelock
Progressive SNHL

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16
Q

Noonan

A 
Autosomal dominant
RASMAPK pathway PTPN11, SOS1 (most sporadic)
Webbed neck
Widely spaced nipples
Wooly hair
Sternal deformity
Pulmonary stenosis**
ASD
HOCM
Associated malignant hypothermia,
Leukaemia
Wilm's
Single gene testing
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17
Q

Costello

A 
Autosomal dominant
RASMAPK pathway HRAS
Big babies
Loose skin on hands and feet, deep palmar crease
FTT
HOCM
Tumour, sick, rhabdo, neuroblastoma
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18
Q

Cardiofasciocutaneous

A 
Autosomal dominant
RASMAPK pathway KRAS
Curly sparse hair
FTT ***
Learning difficulties
Developmental delay
Seziures
HOCM
PS
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19
Q

Treacher Collins

A 
Autosomal dominant
TCOF1
Midface hypoplasia
Cleft palate
Ear/eye anomalies
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20
Q

Alpha 1 antitrypsin deficiency

A 
Autosomal dominant
SERPINA1
Neonatal hepatitis
Jaundice
Pale stools
Hepatomegaly
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21
Q

Achondroplasia

A 
Autosomal dominant
FGFR3 (most sporadic)
Inhibits chondrocyte
Lethal - thanatophoric dwarfism
Telephone handle femur
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22
Q

Apert

A 
Autosomal dominant
FGFR2 (most sporadic)
Craniosynostosis
Exopthalmos
Moderate intellectual disability
Symmetrical syndactyly
Cleft palate
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23
Q

Crouzon

A 
Autosomal dominant
FGFR2
Craniosynostosis
Hydrocephalus
Proptosis
Strabismus
Normal intelligence
Hands, feet
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24
Q

Pfeifer

A

Autosomal dominant
FGFR2
Skull deformity
Deviated short broad thumb and big toe

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25
Q

ADPCKD

A 
Autosomal dominant
PKD1 Chr16*
PKD2 Ch4
Bilateral massive kidneys
Multiple cysts
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26
Q

Familial adenomatous polyposis

A

Autosomal dominant
APC
Multiple colonic plyps
Screening colonoscopy from 10 yo

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27
Q

Li Fraumeni

A 
Autosomal dominant
p53
Multiple malignancies (sarcoma, breast, leukaemia, adrenal)
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28
Q

MEN1

A

Autosomal dominant
MEN1
Pancreas, pituitary, parathyroid tumous

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29
Q

MEN2A +2B

A 
Autosomal dominant
RET
Phaechromocytoma
Parathyroid adenoma
Medullary thyroid carcinoma
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30
Q

Charcot Marie Tooth

A 
Autosomal dominant
CMT1
PMPZZ
Foot drop
Ataxia
Foot deformity
Nerve conduction studies
Normal CK
Dural nerve biopsy *onion bulb*
No treatment
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31
Q

CHARGE

A 
Autosomal dominant
CHD7
Coloboma/cranial nerve dysfunction
Heart - TOF
Chonal Atresia
Mental Retardation
Genital abnormalities
TOF/OA, defect in thyme development
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32
Q

Hypomelanosis of Ito

A

Autosomal dominant
Hypopigmented whorls
Seizures
Mental retardation

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33
Q

Osler-Weber-Rendu/Hereditary Haemorrhagic Telangiectasia

A 
Autosomal dominant
Skin lesions
AVM
GI bleeding
Haematuria
Recurrent epistaxis
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34
Q

Gilbert disease

A

Autosomal dominant
Mutation glucoronyltransferase
Intermittent painless unconjugated jaundice

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35
Q

Peutz-Jeghers

A

Autosomal dominant
Dark spots on lips
Risk polyps in GIT with possible malignant transformation

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36
Q

Myotonic dystrophy

A

Autosomal dominant
DMPK GTG triplet repeat
Anticipation (mum)
Clench hands difficult to open - check handshake in parents
Myotonia, muscle wasting, cataracts, cognitive delay

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37
Q

Huntingtons

A

Autosomal dominant
CAG triplet repeat >40
Anticipation (Dad)
Depression, choreiform movements, caudate atrophy

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38
Q

RASMAPK Pathway

A

Noonans
Costello
Cardiofasciocutaneous
NF1

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39
Q

Cystic fibrosis

A

Autosomal recessive
CFTR Chr7
1. G542X most severe - can’t make CFTR
2. DF508** most common - can’t fold CFTR Rx lumicaftar
3. G551D most treatable - normal CFTR protein but can’t transport Rx Ivacaftar
4. R117H most asymptomatic - normal CFTR some transport some can’t - incidental finding in fertility testing

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40
Q

Wilson’s disease

A 
Autosomal recessive
ATP7B
Think in any child with abnormal movements/psychiatric disease + abdominal pain
Liver <10yo
Neurological >10yo
Kayser-Flesher rings
Dx: low ceruloplasmin, high urinary copper, liver biopsy to confirm
Rx: copper chelation
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41
Q

Pendred

A

Autosomal recessive

Congenital SNHL, goitre

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42
Q

Fanconi anaemia

A 
Autosomal recessive
FANCA, FANCB
Think if cytopaenia + congenital malformation especially thumbs
Aplasia of radius
Short
Ash leaf/cafe au lait
PDA, ASD/VSD, situs invertis
AML
Dx: anaemia, high HbH, high AFP
Chromosomal breakage/fragility studies
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43
Q

Homocysteinuria

A 
Autosomal recessive
CB5
Tall and dumb
Ectopia lentis (downward dislocation of lens)
Malar flushing
Livedor reticular
Seizures
Dx: homocysteine blood/urine, plasma amino acids
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44
Q

ARPKD

A

Autosomal recessive
PKHD1 both kidneys enlarged cysts throughout
Neonate can get POTTERS
Hypertension
Bilateral flank mass
Renal/liver dysfunction
DDH/talipes/pulmonary hypoplasia due to severe oligohydramnios

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45
Q

Gitelman

A

Autosomal recessive
Defect Na/K transport
Nocturia, parenthesis, joint pain
Same as thiazide diuretic (low K, low H, high glucose, high uric acid. Low urine calcium)

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46
Q

Bartter

A 
Autosomal recessive
SLC2A1
Polyuria, polydipsia, nephrocalcinosis
Low Na, K, Cl
High urinary Ca (same as loop diuretic)
IVF/replace salts
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47
Q

Alpha thalassaemia

A

Autosomal recessive
Chr 16
HBA1, HBA1

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48
Q

Beta thalassaemia

A

Autosomal recessive

Chr 11

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49
Q

Sickle cell anaemia

A

Autosomal recessive
HBB
Risk gallstones

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50
Q

Glanzmann

A

Autosomal recessive

Normal platelet number, can’t aggregate

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51
Q

Smith-Lemli-Opitz

A 
Autosomal recessive
DHCR7
Cholesterol synthesis problem
Poor growth**
Cleft palate
Hypotonia
Congenital cataracts
Absent corpus callosum
ID
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52
Q

Cartilage hair hypoplasia

A

Autosomal recessive
Mini me! dwarfism
Thin sparse hair
Bone marrow failure - malignancy

53
Q

Carpenter

A 
Autosomal recessive
Craniosynostosis
Fusion of fingers
Hearing loss
Situs invertus
54
Q

Ataxia telangiectasia

A 
Autosomal recessive
ATM
Ataxia
Nystagmus
Lack of eye movements so moves head
Telangiectasia
Recurrent sinopulmonary infections
Lymphoma
Dx high AFP, low IgA
Western blot no ATM
55
Q

Metachromaticleukodystrophy

A 
Autosomal recessive
ARSA
Hypotonia
Distal weakness
Absent reflexes
56
Q

SMA

A 
Autosomal recessive
SMN1 5q11
Regression
Poor muscle tone
Fasciculations
Areflexia (LMN signs)

Type 1: from birth most severe, never sit
Type 1: intermediate, never stand
Type 3: shoulder girdle problems, 3-15yo

CK normal
Biopsy: large gap atrophy

57
Q

Tay Sachs

A

Autosomal recessive
HEXA/HEXB
Metabolic
Cherry red spots in eye

58
Q

TAR Thrombocytopaenia absent radii

A

Autosomal recessive

RBM8A

59
Q

Friedrichs ataxia

A 
Autosomal recessive
FXN GAA triplet repeat
*anticipation*
Ataxia
Vision
Speech
Hearing
Weakness
Cardiac - HOCM
High arches
Scoliosis
60
Q

Crigler-Jajjar

A

Autosomal recessive

Type 1: severe jaundice, lifelong phototherapy, liver transplant
Type 2: not as severe

61
Q

Kartageners/Primary Ciliary Dyskinesia

A 
Autosomal recessive
Absent dyenin arms
Dextrocardia
Sinusitis
Bronchiectasis
62
Q

Glucose galactose malabsorption

A 
Autosomal recessive
SGLT1/GLUT1
Severe osmotic diarrhoea, stops when sugar eliminated
Renal calculi
Glucose hydrogen breath test positive
Give fructose based formula
63
Q

Congenital chloride diarrhoea

A 
Autosomal recessive
Mutation in Cl/HCO3 transport
Severe dehydration
Low Cl
Stool Cl +++
64
Q

DKU

A 
Autosomal recessive
Phenylalanine defect
Can't make tyrosine
Normal then severe ID, seizures, psych, must odour in urine
Low phenylaline diet
65
Q

Congenital deafness

A

Autosomal recessive
Connexin 26 gene/GJB2, Connexin 30 gene/GJB6
Normal at birth SNHL 1-6yo
Disrupts K+ in ear

66
Q

Downs syndrome

A

T21
(non-dysjunctional*, mosaic, translocation)
1:600
47XY +21 (non-dysfunctional - related to maternal age)
Robertsonian t(14,21), t(21:21), 100% risk passing on
Masaic 46XY/47XY+21
Low PAPPA
High bHCG
Low AFP

Associated: ALL, AML 400%, hypothyroidism, duodenal atresia, Hirschprungs, coeliac
AVSD/VSD/ASD/PDA/TOF
ADHD
ID
GDD
67
Q

Edwards syndrome

A 
T18
Non-dysjunctional
Rockerbottom feet
Syndactyly
2+3 toes
No digital creases 3+4 fingers
Weak cry, hypertonic
Undescended testes
68
Q

Patau syndrome

A 
T13
Holoprosencephaly
Polydactyly
Cleft lip/palate
No hair on scalp
Most die by 1yo
69
Q

Turners syndrome

A 
45XO (Mosaic 45XO/46XX)
Normal IQ
Short
Neonates puffy dorsum or hands and feet
Webbed neck
Widely spaced nipples
Delayed puberty, infertility
Associated: CoA, bicuspid aortic valve, horseshoe kidney, IBD, diabetes, deafness, JIA, infertility
Tx: GH
70
Q

Kleinfelters

A 
47XXY
Male
Thin but female body habitus
Long legs
Normal IQ
Delayed puberty, gynaecomastia
Infertility**
Psychiatric
Associated breast cancer, leukamia
IM testosterone
71
Q

47XYY

A

Tall
Developmental delay
ID/behavioural

72
Q

Triple X

A

47XXX
Normal/mild ID
Normal fertility

73
Q

Rett

A 
X linked dominant
MECP2 (some sporadic)
Mostly females, lethal in males
Normal development until 6-8mo then language/developmental regression
Stereotyped hand movements
74
Q

Incontinentia Pigmenti

A 
X linked dominant
Mostly females, lethal in males
Rash
Eosinophilia
Neonatal seizures
Alopecia
Wolly hair
75
Q

Hyperphosphataemic rickets

A

X linked dominant

76
Q

DMD

A

X linked dominant
Dystrophin gene (frameshift or nonsense mutation)
Proximal myopathy, pseudo hypertrophy calf
Dilated cardiomyopathy
Dx Western blot, muscle biopsy, CK+++

77
Q

BMD

A 
X linked dominant
Dystrophin gene (non-frameshift insertion)
Later onset
Cardiac disease worse
Dx Western blot, muscle biopsy
78
Q

Adrenoleukodystrophy

A 
X linked recessive
ABCD1
VLCFA accumulation
Dark gums
Gait problems
ID
Behavioural
79
Q

Haemophilia A, B

A

X linked recessive
A (factor 8)
B (factor 9)

80
Q

Wiscott-Aldrich

A

X linked recessive
Thrombocytopaenia
Eczema
Immune deficiency

81
Q

G6PD

A

X linked recessive

82
Q

Menkes

A 
X linked recessive
ATP7A
Connective tissue disease
Brittle kinky hair
Poor growth
Severe developmental delay
Seziures
Dx: low copper, caeruloplasmin
83
Q

Fabry

A

X linked recessive
Corneal opacity
Telangiectasia

84
Q

Fragile X

A 
X linked recessive
CGG triplet repeat on K FMRI (normal <40, pre mutation 55-200, full >200 repeats)
*anticipation*
Macrocephaly
Severe ID
Macro-orchidism
Eye avoidant
Mitral valve prolapse
Dx: DNA molecular analysis for size of triplet repeat, PCR/southern blot
85
Q

Lesh Nyhan

A

X linked recessive
Self mutilating behaviours e.g. biting lips
Gout
Motor retardation

86
Q

Impring/uniparental disomy

A

Diagnosis - DNA methylation studies

87
Q

Prader Willi Syndrome

A 
15q imprinting i.e. paternal deletion or maternal uniparental disomy (most sporadic)
Short and fat**
ID*
Epilepsy
Hypogonadism
Small hands and feet
Autistic like behaviours
Think of baby in frog leg position with NGT
88
Q

Angelman

A 
UBE3A 15q imprinting i.e. maternal deletion or paternal uniparental disomy
Happy puppet
Hand flapping
ID
Seizures
Microcephaly
Ataxic
89
Q

Russell Silver

A 
No IGF2
11p imprinting i.e. paternal deletion or maternal uniparental disomy (sporadic)
Undergrowth
Small
Cafe au lait
Normal/large head
Rx GH
90
Q

Beckwith Weidermann

A 
Double IGF2
11p imprinting i.e. maternal deletion or paternal uniparental disomy (most sporadic)
Macrosomia
Macroglossia
Overgrowth
Oomphalocele
Undescended testes
Hypoglycaemia due to hyper insulinism
No ID
Risk Wilms tumour (US) and hepatoblastoma (AFP) screen every 3/12 until 8yo
91
Q

CATCH22

A 
22q11
Cleft
Abnormal face
Thymic aplasia (T cell deficiency)
Cardiac defects (CoA, TOF, interrupted aortic arch*)
Hypocalcaemia (parathyroid hypoplasia)
92
Q

22q11 deletion

A

90% sporadic, TBX1*

DiGeorge: cleft palate, thyme aplasia, hypocalcaemia, immune deficiency)

Velocardiofacial: face, cleft, cardiac

Pierre Robin Sequence: 15% of 22q11 - small jaw, U shaped cleft, glossoptosis

93
Q

Proteus

A

AKT1 gene

Overgrowth syndrome

94
Q

Omen

A

RAG1, RAG2

95
Q

Cri Du Chat

A 
5p deletion
Microcephaly
High pitched crying/meowing
Severe ID
VSD
96
Q

Alport

A

XLAS, COL4A5

97
Q

McCune Albright

A

GNAS1 (sporadic)
Cafe au lait
Fibrous dysplasia of bones
Precoccious puberty

98
Q

Miller Deiker

A

Severe hypotonia

Smooth cortex on MRI

99
Q

Sturge Weber

A

Facial capillary malformation, glaucoma, enlargement of eyeball, seizures, strokes, GDD

100
Q

Sotos

A 
NSD1 (AD/most sporadic)
Overgrowth
DD
ADHD/OCD
Scoliosis
Seizures
101
Q

Holoprosencephaly

A 
Dysgenesis of corpus collosum
Central incisor
Bifid uvula
Seizures
Severe DD
Die by 1
102
Q

Goldenhaur

A

Facial distortion
Hearing impairment
Epibulbar dermoids (nodule in eye)

103
Q

Usher

A

Deafness, vision loss

104
Q

VACTERL

A 
Vertebral anomalies
Anal atresia
Cardiovascular (PDA/PO)
Tracheo-oEsophageal fistula
Renal
Limb malformations
105
Q

Sensory neural hearing loss

A

Most common inherited cause - connexin 26

106
Q

Netherton

A 
Severe eczema
Atopy
FTT
Recurrent infections
Bamboo hair/alopecia
107
Q

Churg Strauss

A

Asthma
Eosinophilia
Chronic sinusitis

108
Q

Krabbe

A

Seizures
Blind
FTT

109
Q

Testing

A

Chromosomal: FISH, karyotype, microarray
Imprinting: DNA methylation studies
Mutation: point mutation
Known gene defects: single gene analysis

110
Q

Karyotype

A

Aneuploidy
Translocation
Sex chromosomes

111
Q

Microarray

A

DNA duplicated or missing

Good for unbalanced, micro deletions

112
Q

SNP array

A

Single nucleotide polymorphisms
Good for consanguinity
Wide genome screen
Can’t detect balanced rearrangements or point mutations

113
Q

FISH

A

Specific for micro deletions and duplications
Important for risk
Fast

114
Q

Triple repeat analysis

A

PCR for triplet repeat, then southern blot to size

115
Q

MLPA

A

PCR amplification to area of interest

Good for small deletions/duplications e.g. PWS, Angelman

116
Q

Sanger Sequencing

A

Can screen for unknown mutation application of target DNA

117
Q

DNA microarray

A

Single point mutations or deletions in gene

118
Q

DNA methylation

A

Detects uniparental disomay

If negative = imprinting disorder

119
Q

Blots

A

Labels to identify DNA/RNA/Protein

sNoW DRoP
Southern = DNA
Northern = RNA
Western = Protein

120
Q

Chromosomal Breakage Test

A

Fanconi anaemia
Hereditary Spherocytosis
Ataxia Telangiectasia

121
Q

Next Generation Sequencing

A

Exam sequencing
Whole genome sequencying
Prenatal chromosomal microarray

122
Q

Skips generations

123
Q

All generations

124
Q

Consanguinity

A

Usually recessive

125
Q

Male:Female 1:1

126
Q

Autosomal recessive

A

usually loss of function mutations

Usually no spontaneous mutations

127
Q

Autosomal dominant

A

Can also usually be spontaneous mutations

128
Q

AR if both parents carriers

A

1/4 affected, 1/2 carriers, 1/4 unaffected
2/3 unaffected siblings are carriers
If unaffected, 2/3 change of being carrier

INCIDENCE = (CARRIER FREQUENCY)~2 x4

Paeds Exam Cram (19 decks)

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