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3a > Genetic conditions > Flashcards

Genetic conditions Flashcards

1
Q

Give 6 features of down’s syndrome

A
  • Hypotonia
  • Face : upsloping palpebral fissures, prominent epicanthic folds, brushfield spots in iris
  • Short neck, short stature & low set ears
  • Brachycephaly : small head, flat at the back
  • Single palmar crease
  • Duodenal atresia and hirschsprung
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2
Q

Give 5 cardiac complications of down’s

A
  • ASD
  • VSD
  • TOF
  • PDA
  • Atroventricular septal defect / endocardial cushion
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3
Q

Give 8 complications people with Down’s are at a higher risk of

A

-Dementia
-ALL
-Recurrent otitiss media + glue ear
-Deafness
-Learning difficulties
-Subfertility
-Antlantoaxial instability
-Hypothyroid

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4
Q

Give 5 features of Klinefelter’s

A

-Taller
-Wide hips
-Gynaecomastia
-Small testicles
-Lack of secondary sexual characteristics

47XXY

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5
Q

Give 4 features of turner’s

A
  • Short stature
  • Wide spaced nipples
  • Webbed neck
  • Primary amenorrhoea

45XO

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6
Q

Give 2 cardiac complications of turner’s

A

LEFT SIDE OF THE HEART

-Bicuspid aortic valve
-Coarctation of the aorta = ejection systolic murmur

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7
Q

Give 5 features of noonan syndrome

A
  • Triangular face shape
  • Hypertelorium
  • Short stature
  • Webbed neck
  • Widely spaced nipples

N = z = 2 = chromosome 12

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8
Q

Give 3 cardiac complications of Noonan’s

A

RIGHT SIDE OF THE HEART

ASD
Pulmonary stenosis
Hypertrophic cardiomyopathy

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9
Q

Give 4 complications of Noonan’s syndrome

A
  • Crytorchidism = infertility
  • Bleeding disorders = Factor XI deficiency
  • Increased risk of leukaemia and neuroblastoma
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10
Q

Give 5 features of Marfan’s syndrome

A
  • Tall stature
  • Long neck, limbs and fingers
  • High arch palate
  • Hypermobility
  • Pectus carinatum or excavatum
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11
Q

Give 3 cardiac complicaitons of Marfan’s

A

Mitral valve prolapse (w regurg)
Aortic valve prolapse (w regurg)
Aortic dissection / aneurysms

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12
Q

Give 4 features of fragile X

A

Large ears
Long, narrow face
Learning difficulties
Macroorchidism after puberty

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13
Q

what is a cardiac complication of fragile X

A

Mitral valve prolapse

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14
Q

Give 4 features of prada-willi

A

Insatiable hunger
Hypotonia
Dysmorphic features
Learning disability

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15
Q

Give 5 features of angelmans

A

Fascination with water
Happy demeanour
Wide mouth and widely spaced teeth
Inappropriate laughter
Hand flappinh

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16
Q

Give 4 features of william’s syndrome

A

Very friendly and social
Starburst eyes
Elfin-like facies
Wide mouth and widely spaced teeth

Chromosome 7

17
Q

What is a cardiac complication of William’s syndrome

A

Supravalvular aortic stenosis (W = VV)

18
Q

Give 3 other complications of William’s syndrome

A

Hypercalcaemia
HTN
ADHD

19
Q

Give 2 complications of prader-willi

A

Childhood obesity
Hypogonadism and infertility

20
Q

Give 4 features of edward’s syndrome

A

Micrognathia
Low set ears
Rocker bottom feet
Overlapping of fingers

TRISOMY 18

21
Q

Give 4 features of patau syndrome

A
  • Polydactyly (e.g. 13 = trisomy 13)
  • Cleft lip / palate
  • Microcephalic, small eyes
  • Scalp lesions

All the P’s

22
Q

Give 3 features of cri du chat syndrome

A
  • Characteristic cry
  • Feeding difficulty, poor weight gain and learning difficulties = too busy crying
23
Q

Edwards

A

Rocker bottom feet
Overlapping fingers

Trisomy 18

24
Q

what is the inheritance of noonan’s

A
  • Autosommal dominant
25
Q

what is the inheritance of marfan’s

A
  • Autosommal dominant
  • Chromosome 15
26
Q

what is the inheritance of prader-willi

A
  • genetic imprinting -> gene delated from father
  • chromosome 15
27
Q

what is the inheritance of angelman

A

genetic imprinting -> gene deleted from mother

28
Q

what chromosome is involved in williams

A

chromosome 7

29
Q

Explain the inheritance of di George

A

22q11 deletion

30
Q

How does Di George present

A
  • Hypocalcaemia : parathyroid aplasia/hypoplasia
  • Recurrent infections : T cell deficiency due to thymus aplasia
31
Q

what cardiac abnormality is seen in Di george

A
  • Interrupted aortic arch

3a (45 decks)

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