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3a > Paed:Genetics > Flashcards

Paed:Genetics Flashcards

1
Q

What is Klinefelters Syndrome?

A

47, XXY (extra X chromosome)

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2
Q

Features of klinefelters?

A 
Infertility
Hypogonadism with small testes
Gynaecomastia in adolescence
Tall stature
Intelligence normal or decreased
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3
Q

What is Turners Syndrome?

A

45, X (missing X or Y).

Usually results in early miscarriage and detected by fetal uss showing oedema.

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4
Q

Clinical features of Turners?

A 
Lymphoedema of hands and feet in neonate
Spoon shaped nails
Short stature (cardinal feature)
neck webbing
wide carrying angle
wide spaced nipples
Coarctation of aorta
Delayed puberty
ovarian dysfunction
renal anomalies
millie has this lol
hypothyroidism
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5
Q

What is Downs syndrome?

A

Trisomy 21

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6
Q

Clinical features of T21?

A

Severe learning difficulties
Facial abnormalities: round face, flat nasal bridge, upslanted palpebral fissures, epicanthic folds, small mouth
fkat occiput
single palmar creases
incurved fifth finger
wide sandal gap between second and third toe

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7
Q

Diagnosis of T21

A

Blood analysis by fluroscent in situ hybridisation(FISH

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8
Q

What kills downs?

A

Congenital heart disease. Particularly AVSD

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9
Q

How does the extra chromosome come about?

A

Meiotic non disjunction (94%)
Translocation (5%)
Mosaicism

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10
Q

What is edwards syndrome?

A

Trisomy 18.

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11
Q

How to confirm edwards and pataus?

A

Chromosomal analysis

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12
Q

How to confrim edwards in utero?

A

Amnioscentesis

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13
Q

What is pataus syndrome?

A

Trisomy 13

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14
Q

Features of edwards?

A 
LBW
Prominent occiput
small mouth and chin
small sternum
rocker bottom feet
cardiac and renal malformation
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15
Q

Features of pataus?

A 
Structural defect of brain
scalp defect 
small eyes
defects in eye
cleft lip and palate
polydactyl
cardiac and renal malfromations
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16
Q

What is Prader Willi syndrome?

A

Cytogenic deletion of chromosme 15q OR uniparental deletion of chromosome 15.

17
Q

Clinical features of prader willi

A 
Neonatal hypotonia and poor feeding
moderate mental retardation
hyperphagia
obesity
small genitalia
18
Q

Clinical features of Angelmans syndrome?

A 
Unprovoked laughing and clapping (happy puppet)
microcephaly
mental retardation
seizures
ataxia
broad based gait
19
Q

What is Fragile X? With signs

A 
(also known as Martin Bell)
Delayed speech and language
Delayed motor milestones
low iq
hyperactivity
emotional and behavioural problems
Physical features: long narrow face, large ears, prominent jaw, big testes
20
Q

What is Noonan syndrome?

A

A multisystem disorder characterised by short stature and characteristic facial features: ptosis, down slanting eyes, low set ears, congenital heart defects (hypertrophic cardiomyopathy and pulm stenosis) +/- chest and spine deformities, webbed neck, clotting disorders, learning disabilities

21
Q

What is Duchennes Muscular Dystrophy?

A

Mutations in dystrophin gene results in near total loss of dystrophin, the muscles get replaced by fibro-adipose tissue.

22
Q

Presentation of DMD?

A

Boys aged 1-6 years w/ waddling clumsy gait and the classical gowers manoeuvre.

23
Q

What is the Gowers manoeuvre?

A

Using hands to climb up legs on standing.

24
Q

Complications of DMD?

A

Respiratory impairment and infections
cardiomyopathy
orthopaeid complications

25
Q

Investigations of DMD?

A

Creatinine kinase raised
measure this in all boys not walking by 18months
Do muscle biopsy to see abnormal fibres surrounded by fatty fibrous tissue.

26
Q

Treatment of DMD?

A

Prednisolone slows decline in strength.

27
Q

What causes Williams Syndrome?

A

Microdeletion of chromosome 7q11 that encompasses the elastin gene.

28
Q

What are the facial features in Williams syndrome?

A

Periorbital fullness, full cheeks, antiverted nares, wide mouth and full lips, small widely spaced teeth.

29
Q

What cardiac defect is associated with Williams syndrome?

A

Supravalvular aortic stenosis.

often with peripheral pulmonary branch stenosis.

30
Q

Behaviour of williams syndrome ppl?

A

Overfriendly, short attention span, anxiety, most have mild mental retardation, good language but poor visuospatial skills.

31
Q

How is williams syndrome diagnosed?

A

FISH study for the 7q11 microdeletion.

3a (25 decks)

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