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Finals Systems > Paeds genetics > Flashcards

Paeds genetics Flashcards

1
Q

Micrognathia
Low-set ears
Rocker bottom feet
Overlapping of fingers
Learning disability

A

Edward’s syndrome - trisomy 18

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2
Q

Microcephalic, small eyes
Cleft lip/palate
Polydactyly
Scalp lesions
Also rocker-bottom feet

A

Patau syndrome - trisomy 13

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3
Q

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

A

Noonan syndrome

‘male turners’
autosomal dominant
defect on chromosome 12

pulmonary valve stenosis, hypertrophic cardiomyopathy, ASD
cryptochordism
factor XI deficiency (coagulation)

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4
Q

Tall stature
Long neck
Long limbs
Long fingers (arachnodactyly)
High arch palate
Hypermobility
Pectus carinatum or pectus excavatum
Downward sloping palpable fissures

A

Marfan’s syndrome

autosomal dominant connective tissue disorder
FBN1 gene on chromosome 15 that codes for protein fibrillin-1

mitral and aortic valve prolapse, aortic aneurysm
ACE inhibitors and beta blockers to reduce strain on heart

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5
Q

Constant insatiable hunger that leads to obesity
Poor muscle tone as an infant (hypotonia)
Mild-moderate learning disability
Hypogonadism
Dysmorphic features
Narrow forehead
Almond shaped eyes
Strabismus

A

prader-willi

loss of functioning genes on proximal arm of chromosome 15 (deletion from father or both from mother) imprinting (only one copy of a gene in an individual (either from their mother or their father) is expressed, while the other copy is suppressed)

absence of the active Prader-Willi gene on the long arm of chromosome 15. This may be due to:
microdeletion of paternal 15q11-13 (70% of cases)
maternal uniparental disomy of chromosome 15

growth hormone to improve muscle development and body composition

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6
Q

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

A

angelman

loss of function of the UBE3A gene, specifically the copy of the gene that is inherited from the mother. This can be caused by a deletion on chromosome 15, a specific mutation in this gene or where two copies of chromosome 15 are contributed by the father, with no copy from the mother.

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7
Q

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
elfin-like facies
characteristic like affect - very friendly and social
learning difficulties

A

William syndrome

deletion of genetic material on one copy of chromosome 7

Supravalvular aortic stenosis (narrowing just above the aortic valve)
Attention-deficit hyperactivity disorder
Hypertension
transient neonatal hypercalcaemia

FISH studies

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8
Q

Supravalvular aortic stenosis

A

William’s

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9
Q

Micrognathia
Posterior displacement of the tongue (may result in upper airway obstruction)
Cleft palate

A

Pierre-Robin syndrome

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10
Q

What defect is patau

A

trisomy 13

think 13 fingers

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11
Q

What defect is edwards

A

trisomy 18

think overlpping fingers making an 18 shape

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12
Q

inheritance noonan syndrome

A

autosomal dominant

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13
Q

chromosome noonan

A

chromosome 12

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14
Q

pulmonary valve stenosis

A

noonan syndrome

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15
Q

ehlers danlos syndrome

inheritance
pathophysiology
cardiac
hypermobile scoring

A

hypermobile, stretchy skin

autosomal dominant

type 3 collagen

aortic regurg,dissection, mitral prolapse

beighton score

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16
Q

Supravalvular aortic stenosis

A

William syndrome

17
Q

Learning difficulties
Macrocephaly
Long face
Large ears
Macro-orchidism

A

Fragile X

18
Q

Characteristic cry (hence the name) due to larynx and neurological problems
Feeding difficulties and poor weight gain
Learning difficulties
Microcephaly and micrognathism
Hypertelorism

A

Cri du chat syndrome (chromosome 5p deletion syndrome)

19
Q

Genetics prader willi

A

loss of functioning genes on proximal arm of chromosome 15 (deletion from father or both from mother) imprinting (only one copy of a gene in an individual (either from their mother or their father) is expressed, while the other copy is suppressed)

absence of the active Prader-Willi gene on the long arm of chromosome 15. This may be due to:
microdeletion of paternal 15q11-13 (70% of cases)
maternal uniparental disomy of chromosome 15

20
Q

Noonan cardiac implications

A

Right side of the heart

ASD
Pulmonary stenosis
Hypertrophic cardiomyopathy

21
Q

Features of Edwards syndrome? what defect?

A

Trisomy 18 (overlapping fingers looks like an 8)

Overlapping of fingers
Low set ears
Rocker bottom feet
Micrognathia
Learning disability

22
Q

Features of Patau syndrome? what defect?

A

Trisomy 13 (13 fingers)

Polydactyly
Rocker bottom feet
Cleft lip/palate
scalp lesions
Microcephalic
Small eyes

23
Q

Features of marfans syndrome

A

Mitral prolapse (w/ regurg)
Aortic aneurysm
Retinal detachment
FBN1
Arandactly
Near sightedness
Scoliosis

Pectus excavantum/carinatum

24
Q

Inheritance marfans

A

autosomal dominant

25
Q

Inheritance ehlers danlos

A

autosomal dominant

26
Q

Features of william syndrome? what chromosome

A

Chromosome 7 (deletion/imprinting)

Wi = 7 points = chromosome 7
Starburst eyes
supravalvular aortic stenosis
Ca2+ rise and fall at birth
happy demeaner
ADHD

27
Q

Features pierre-robin syndrome

A

Micrognathia
Posterior displacement of the tongue (may result in upper airway obstruction)
Cleft palate

28
Q

Features of Angelman? what chromsome?

A

Chromosome 15 (deletion/imprinting)

Fascination with water
Happy demeanour
Ataxia
Flapping of hands
Epilepsy
Attention-deficit hyperactivity disorder

29
Q

Features cri du chat? what defect?

A

5p- (5p minus) syndrome

charcateristic cry
learning difficulties
feeding difficulties
poor weight gain

30
Q

Cardiac fragile X

A

mitral valve prolapse

31
Q

Genetics fragile X

A

Trinucleotide repeat

X linked with variable penetrance

32
Q

Inheritance achondroplaisa

A

autosomal dominant

In most cases (approximately 70%) it occurs as a sporadic mutation. The main risk factor is advancing parental age at the time of conception. Once present it is typically inherited in an autosomal dominant fashion.

33
Q

Features achondroplasia

A

short limbs (rhizomelia) with shortened fingers (brachydactyly)
large head with frontal bossing and narrow foramen magnum
midface hypoplasia with a flattened nasal bridge
‘trident’ hands
lumbar lordosis

34
Q

Di george syndrome

A

CATCH 22

Cardiac abnormalities
Abnormal facies
Tymic hypoplasia/TOF
Cleft palate
Hypocalcemia
22q11.2

Interrupted aortic branch
TOF
Truncus arteriosus

Finals Systems (27 decks)

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