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Paediatrics > Clinical genetics and dysmorphic children > Flashcards

Clinical genetics and dysmorphic children Flashcards

1
Q

What % of Down syndrome is trisomy 21 and what are the others?

A

T21 - 95%
Translocation 3%
Mosaic 2%

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2
Q

Describe some dysmorphic features of Down syndrome

A

No epicanthic fold
Sandal gap toes
Simian palmar crease

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3
Q

What is trisomy 13 also called and what are the features?

A
  1. Is patau syndrome
    Microcephalic, small eyes, cleft lip/palate, polydactyly, scalp lesions,
    Congenital heart/ renal.
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4
Q

What is trisomy 18 called and what are the features?

A 
18- Edwards
Over-lapping fingers
Rocker-bottom feet
Heart/renal defects
Micrognathia 
Low set ears
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5
Q

What is the karotype for turners syndrome and what are its features?

A 
47 X0 
Coarctation of the aorta
Wide nipples 
Webbed neck
Infertility
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6
Q

What’s the karyotype for klinefelters?

A

47XXY

Male, tall, female fat distribution, sterile, lower iq and speech delay

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7
Q

Which two syndromes do we see the deletion of 15q11-q13 but different outcomes?

A

Prader-willi (paternal)- obesity and learning difficulties
Angelman (maternal)- development delay, hyperactive, flaps hands, widely spaced teeth

This mode of inheritance is called imprinting

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8
Q

What is velocardiofacial syndrome?

A

Abnormal pharyngeal arch, e.g. Cleft
Cardiac abnormalities (outflow)
Deletion of 22q11.2

Shprintzen and digeorge are examples

Di George has: CATCH
C- cardiac abnormalities 
A- abnormal facies
T- thymic aplasia
C- cleft palate 
H- hypocalcemia/ hypoparathyriod
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9
Q

What’s the carrier rate for CF gene in Caucasian population?

A

1/25 carrier (AR inheritance) incidence 1/2500

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10
Q

What are the important X-linked conditions to know about?

A

Haemophilia
Duchenne muscular dystrophy
Colour blindness
Fragile x (cgg triplet repeat)

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11
Q

What are the important AD linked genetic condictions?

A 
Neurofibromatosis
Marfans 
Huntingtons 
Achondroplasia 
Tuberous sclerosis
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12
Q

What can be used for rapid diagnosis of trisomy 21?

A

Fish - fluorescence in situ hybridisation
Prenatal and postnatal
When cells are in interphase

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13
Q

Risk of Down syndrome in a 40 year old?

A

1/100 (1/110)

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14
Q

What are acrocentric chromosomes? Which numbers are they?

A

Chromosomes where the centromere is located near one end and not in the middle.
13 14 15 21 and 22

Robersonian translocation can only happen on acrocentric chromosomes! E.g. 14:21, 21:21

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15
Q

What are the features of noonan syndrome?

A

Webbed neck, Pectus excavartum, short stature, pulmonary stenosis.

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16
Q

What are the features of Pierre-robin syndrome?

A

Cleft palate
Micrognathia
Posterior displacement of the tongue

17
Q

What are the features of Williams syndrome?

A 
Short stature 
Learning difficulties
Friendly - extroverted - cocktail party
Transient hypercalcaemia
Supravalvular aortic stenosis
18
Q

What Are the features of prader-Willi?

A

Obesity
Hypogonads
Hypotonia

19
Q

What are the features of fragile x? What is the codon repeat?

A 
Larning difficulties
Macrocephalic 
Lond fsce 
Large eArs
Macro-orchidism

CGG triplet repeats

20
Q

What is ‘anticipation’ when referring to an AD inheritance?

A

Gets worse with each generation. More codon or nucleotide repeats.
E.g. Myotonic dystrophy

21
Q

What gene is linked to achondroplasia and what is the inheritance pattern?

A

FGFR3 gene

Autosomal dominant

22
Q

Which diseases are x-linked?

A

Duchene muscular dystrophy
Haemophilia
Colour blindness

23
Q

What are the features of duchenne Muscular dystrophy?

A

Delayed walking, progressive weakness,
Proximal muscle weakness
Gower sign (pt ‘walks’ there hands up there body to go from squatting to upright)
High CK (creatinine kinases)

Gene -dystrophin gene Xp21

Starts from about 4, worsens, often can’t walk by 12. Paralyses by about 20. Average Life expectancy 26.

24
Q

Which syndrome has macrocephaly as a major characteristic?

A

Fragile x

25
Q

What is potters syndrome?

A

Bilateral renal angenisis,

Oligohydramnious

Paediatrics (21 decks)

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