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Paeds - TAS > Genetics > Flashcards

Genetics Flashcards

1
Q

Rett syndrome

A

developmental regression 6-12 months
seizures
periods of hyperventilation
apnoea and repetitive midline hand movements
associated microcephaly

exclusive to females
MECP2 gene deletion

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2
Q

Lesch-Nyhan syndrome

A

X linked recessive
overproduction of uric acid

gross motor delay
gout
self harming behaviours
continually biting lips

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3
Q

Williams Syndrome

A

7q11 deletion involves elastin gene
mild microcephaly and learning disorders
good social and verbal skills
supravalvular aortic stenosis or peripheral pulmonary stenosis
hypercalcaemia

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4
Q

Sturge-Weber Syndrome

A

port wine stain in the trigeminal nerve - with capillary vascular malformation intracranially leads to seizures

may also lead to shrunken brain meningeal angioma
optic atrophy
glaucoma
hemisensory disturbance, hemiplegia developmentla delay

Head xray = tramline calcifications

sporadic mutation in GNAQ

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5
Q

Hereditary Angioedema

A

AD
low levels of C1 esterase inhibitor
management of acute attack: C1 Esterase inhibitor concentrate

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6
Q

Chediak Higashi Syndrome

A

AR
recurrent abscess forming infections, albinism and periperhal neuropathy

mutation affecting lysosomal trafficking regulator protein

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7
Q

Noonan syndrome

A

AD
hypertrophic cardiomyopathy
also associated with other CHD e.g. Pulmonary valvular stenosis
low set ears, down slanting eyes
short webbed neck
pectus carinatum and excavatum

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8
Q

DiGeorge Syndrome

A

cardiac defects - often tetralogy of fallot or common arterial trunk
abnormal facies
absent thymus
cleft palate
hypo Ca due to absent parathyroid glands
22q11 microdeletion

genetic deletion causes defects of neural crest cells

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9
Q

Holt Oram Syndrome

A

AD
heart and upper limb malformation
hypoplastic thumbs and absent radii
main cardiac defect: ASD - fixed wide split
TBX5 gene

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10
Q

VACTERL associations

A

Vertebral (hemivertebrae)
Anorectal - imperforated anus
Cardiac anomalies (VSD)
Tracheo-oesophageal atresia or fistula
Renal malformation
Limb malformation (radial ray anomalies)

sporadic and unknown aeitology

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11
Q

Thrombocytopenia absent radius TAR

A

absence of radii associated with presence of thumbs
malformations upper limb - radial or ulnar
transient thrombocytopenia in first few months of life - petechiae
deletion 1q21.1

can have skeletal, cardiac, renal abnormalities

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12
Q

mtDNA mutations

A

mode of inheritance: maternal
only Mum can pass it on but male and female children can be affected

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13
Q

Spinal Muscular Atrophy

A

SMN1 gene
AR
isolated gross motor delay secondary to weakness and evidence of lower motor neurone pathology
reduced tone, absent reflexes
EMG: denervation and diminished motor action potential

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14
Q

Noonan syndrome

A

AD
pulmonary stenosis
webbed neck downward slanting eyes
PTPN11 mutation chromosome 12q

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15
Q

cardio-facio-cutaneous syndrome

A

abnormalities of heart - Pulmonary stenosis
distinctive facial features: sparse curly hair, bitemporal narrowing, down slanting palpebral fissures, mild hyperteloism
skin abnormalities including hyperkeratosis
AD
poor feeding and faltering growth
BRAF, MAP2K1,MAP2K2,KRAS genes

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16
Q

Faconi anaemia

A

AR
pancytopenia
absence of thumbs
diagnosed by chromosome breakage studies

17
Q

Prader Willi Syndrome

A

15q11-q13 - most cases caused by large deletion of paternal copy
hypotonia
excessive weight gain and hypogonadism
short stature
hypothyroid
learning difficulties
temper tantrum/ behavioural issues

18
Q

loss of regulation of which protein is most responsible for tuberous sclerosis

A

mammalian target of rapamycin mTOR

19
Q

Fragile X syndrome

A

FMRI gene on X chromosome
macrocephaly, learning difficulties, hypotonia
prominent jaw, long face, large ears, high arched palate

20
Q

Smith-Lemli-Opitz

A

metabolic disorder
abnormality in breakdown of cholesterol due to cholesterol reductase deficiency
type 1: major type 2: minor
Mx: diet high in cream and eggs

21
Q

where does RNA splicing occur

A

nucleus

22
Q

angleman syndrome

A

microdeletion
absence of maternally inherited UBE3A gene on chromosome 15q11-q13
intellectual disability
microcephaly
ataxia
flapping of the hands and seizures

23
Q

common aeitology of trisomy 21 vs if FH

A

non disjunction

If FH: translocation

24
Q

Beckwith-Wiedemann syndrome

A

hypoglycaemia
large tongue, macrosomia
right limb hypertrophy
umbilical hernia
11p15
increased risk of developing wilms tumour (nephronblastoma) and hepatoblastoma

25
Q

pallister killian syndrome

A

tetrasomy 12p
coarse facial features
bitemporal sparsity of hair
severe developmental delay
epilepsy, hypotonia and abnormal skin pigmentation

26
Q

trisomy 8

A

deep creases in palms and soles
developmental delay
dysmorphic features - elongated skull, micrognathia and upturned nose
often have brain malformation

27
Q

CAH

A

AR
lack of enzyme 21 hydroxylase, causes build up of 17 hydroxy progesterone
virilisation of female infants

28
Q

which enzyme is most affected in type I glycogen storage disorder

A

glucose 6 phosphatase
typically presents 3-4 months
individuals cant maintain blood glucose between feeds - hypoglycaemia

29
Q

Tay-Sachs disease

A

cherry red spot
poor tone, weak movement, delayed motor milestones
frameshift mutation in HEXA gene chromosome 15

30
Q

which ocular manifestation most likely in a child with familial adenomatous polyposis

A

congenital hypertrophy of the retinal pigment epithelium
flat pigmented lesions of retina

31
Q

stickler syndrome

A

AD
connective tissue disorder
cleft palate, eye problems (myopia), arthritis

32
Q

Patau syndrome

A

trisomy 13
IUGR
feeding difficulties
microcephaly, cutis aplasia, jaundice
holoprosencephaly
cleft palate and lip
VSD or ASD
cataracts, colomba, mircophthalmia and corneal opacities

33
Q

Laurence-Moon-Biedl

A

AR
obesity
hypothalamic abnormalities
cranial diabetes insipidus
nighttime blindness
retinitis pigmentosa

34
Q

neurofibromatosis

A

cafe au lait
axillary freckles
lisch nodules of iris
fibromas
skeletal abnormalities e.g. leg bowing
FH
optic nerve glioma

Paeds - TAS (20 decks)

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