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Flashcards in genetic conditions Deck (21):
1

possible features of the hands and feet in a child with Down syndrome

- single transverse palmar crease
- absent middle phalanx of the 5th finger
- big "saddle" gap between first and second toes

2

aetiology of Fragile X syndrome

X linked condition due to a mutation in an unstable triplet repeat on the X chromosome

3

children with Down syndrome are at an increased risk of which medical conditions

- congenital heart disease - commonly ASD, AVSD and VSD
- conductive deafness
- vision impairment
- hypothyroidism
- duodenal atresia
- leukaemia
- low IQ
- early onset AD
- polycythaemia

4

what results on first trimester screening are suggestive of Down syndrome

- increased nuchal translucency
- high bHCG and PAPP-A

5

aeitology of Klinefelter's

47 XXY karyotype

6

when is Turner's syndrome usually diagnosed

- childhood with short stature
- adolescence with failure of puberty

7

most important risk factor for Down syndrome

maternal age

8

aetiology of down syndrome

trisomy 21 - 90% due to non-disjunction at first meiotic division

9

clinical presentation of children with fragile X syndrome

- overgrowth (prominent jaw, forehead and nasal bridge, long and thin face, large protuberant ears, macroorchidism)
- high arched palate
- hyperextensibility
- decreased IQ (mild-mod)
- shy personality with ADHD

10

possible features of the cranium in a child with Down syndrome

mild microcephaly
flat occiput
3rd fontanelle

11

possible features of the eyes in a child with Down syndrome

upslanting palpebral fissures
inner epicanthal folds
speckled iris
nystagmus

12

clinical features on examination of a child with Turner's syndrome

- poor growth, short stature
- delayed/absent pubertal development
- webbed neck
- cubitus valgus
- short 4th metacarpals/metatarsals
- systolic murmur

13

associated conditions in a child with Prader Willi

insatiable appetite as children
mild/moderate ID

14

which medical conditions are associated with Noonan syndrome

- cardiac problems (typically pulmonary stenosis)
- feeding problems
- pyloric stenosis
- reduced/normal IQ
- delayed puberty

15

what results on second trimester screening are suggestive of Down syndrome

- increased bHCG
- decreased aFP, inhibin A and oestradiol

16

possible features of the face in a child with down syndrome

protruding tongue
large cheeks
small nose
low flat nasal bridge

17

aetiology of Turner's syndrome

complete or partial absence of the second X chromosome in phenotypic females (mostly due to a sporadic mutation)

18

possible features of the ears in a child with Down syndrome

low set
small
overfolded upper helix

19

aetiology of Noonan syndrome

autosomal dominant mutation affecting the RAS-MAPK pathway

20

which medical conditions are associated with Turner's syndrome

primary amenorrhoea
congenital heart defects
poor social skills

21

clinical features on examination in a child with Noonan syndrome

(Very similar to Turner's syndrome)
- short stature
- face - wide set eyes, low set ears, inverted triangular shaped face, webbed neck)
- chest - widely spaced nipples, pectus deformity
- systolic murmur
- cryptorchidism