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Genetics and metabolics Flashcards

1
Q

Most common chromosome abnormality in first trimester spontaneous miscarriage

A
  • Trisomy

trisomy 16 = most common

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2
Q

Trisomy 21 genetic counselling recurrent risk

A

Recurrence = 1% until age > 40 (then age-related risk is >1%)

95% = “free” T21 aka 47 XY (do not need to check parental genes)

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3
Q

22q11 deletion syndrome

A 
Cleft palate
AbN facies
Thymic hypoplasia
Calcium (hypoparathyroidism) 
Heart - conotruncal 
22q11
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4
Q

Pierre Robin sequence

  • features
  • genetic contribution
A
  • cleft palate
  • micrognathia
  • glossoptosis

50% are genetic #1 = Stickler syndrome (eye findings, cartilage findings) #2 = 22q11

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5
Q

Supravalvular aortic stenosis

A

Williams syndrome

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6
Q

William syndrome features

A
  • supravalvular aortic stenosis, HTN
  • idiopathic hypercalcemia
  • Dev delay
  • very friendly
  • ADHD, anxiety
  • face: broad forehead, long philtrum, full lips
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7
Q

Patau (trisomy 13)

A
  • midline cleft,
  • cutis aplasia,
  • polydactyly
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8
Q

Fragile -X

genetics

A

X-linked

triple repeat disorder
= CGG triclucleotide

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9
Q

Angelman syndrome

A
  • Paternal uniparental disomy of chromosome 15
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10
Q

Prader-Willi syndrome

A
  • initial failure to thrive
  • severe hypotonia
  • cryptorchidism
  • hyperphagia
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11
Q

Prader-Willi genetics

A
  • deletion of paternal copy OR
  • uniparental disomy of choromosome 15

(Prader Pas de Father)

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12
Q

Beckwith-Wiedemann

A
  • exomphalos
  • macroglossia
  • giganitsm (hemihypertrophy)

Monitor AFP and U/s (Wilms and hepatoblastoma)

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13
Q

Examples or IEM (small molecules)

  1. amino acid disorders
  2. organic acidemias
  3. FAOD
  4. CHO disorders
A
  1. UCD, MSUD, PKU
  2. propionic acidemia, MMA
  3. LCAD, MCAD
  4. galactosemia, GSD
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14
Q

Examples or IEM: organelles

  1. lysosomes
  2. peroxisomes
  3. mitochondria
A
  1. Tay sachs, Krabbe, MPS, oligosaccharides, Gaucher, Niemann Pick
  2. Zellweger, Adrenoleukodystrophy
  3. MELAS
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15
Q

IEM initial evaluation

A 
Blood: gas, lytes, glucose, CBC, ammonia, lactate
Urine: ketones 
3 acute tests: 
1. plasma amino acids
2. plasma acylcarnitine
3. urine organic acids
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16
Q

Acute metabolic disease, initial management

A
  1. aggressive fluid and electrolytes
  2. caloric supplementation
  3. protein restriction
  4. megavitamins
  5. hemodialysis/hemofiltration/ PD
17
Q

Respiratory alkalosis with normal electrolytes and anion gap

A

Think Ammonium!

18
Q

Urea cycle defect

- diagnosis

A

urine organic acids and plasma amino acids highly suggestive

Dx confirmed by genetics, enzymology

19
Q

UCD features

A

Infantile: decreased feeding, lethargy, seizures, death, kussmaul breathing
Later: protein avoidance, FTT, recurrent illness, behavioural/psychiatric issues, acute encephalopathic events precipitated by minor illness

20
Q

Diagnosis of digeorge

A

FISH or chromosome microarray

21
Q

Beckwith-Wiedemann surveillance

A

-At risk Wilms and hepatoblastoma
u/s every 3 months until age 4 yrs (risk for hepatoblastoma drops after 4 yrs)
then renal ultrasound (and adrenals) every 3 months until 7 yrs
- AFP until 4yrs

22
Q

CHARGE

A

Coloboma, heart, choanal atresia, retardation of growth and development, GU anomalies

23
Q

DMD genetics

A

X-linked recessive trait

  • Diagnose with PCR for dystrophin gene mutation
  • If blood nondiagnostic then muscle biopsy
24
Q

Edwards (Trisomy 18) features

A 
Rocker-bottom feet
cardiac manifestations
clinodactly and overlapping fingers: 
index over 3rd, , 4th over 5th digits
hypoplastic nails
92% mortality in first year
25
Q

Diagnosis of FAOD e.g. MCAD

A
  • acylcarnitine profile (e.g. newborn screen)
26
Q

Confirmed FAS phenotype with or wihtout maternal alcohol exposure

A 
Face: 
- abN facies consistent with FAS or
-  2+ of: short palpebral fissures, abN philtrum, thin upper lip
CNS: 
- HC <= 10 %ile at birth or any age or
-  ID or dev delay or ADHD
Growth:
-  IUGR weight or height <= 10th %ile
- postnatal wt or ht <= 10th %ile
- postnatal wt for ht <= 10th %ile
27
Q

IEM with normal bicarb, pH and ammonia

A

Think aminoacidopathies e.g. galactosemia or hyperglycinemia

28
Q

Treatment of acute hyperammonemia

A
  1. fluids, electrolytes, glucose (5-15%), lipids (1-2g/kg/d) with minimal amounts of protein (0.25g/kg/d)
  2. dose then infusion of: sodium benzoate, sodium phenylacetate, arginine
  3. Initiate peritoneal dialysis or hemodialysis
    Goals:
  4. removal of ammonia from body in form other than urea
  5. minimize endogenous protein breakdown and favour endogenous protein synthesis by adequate calories and essential amino acids
29
Q

Noonans genetics and features

A

Autosomal dominant (2/3 de novo)

  • Features: wide spaced eyes, low set ears, short stature, cryptorchidism, increased NT, renal anomalies, relative fetal macrosomia,
  • Cardiac: pulmonary stenosis (~50%), 20% hypertrophic cardiomopathy
30
Q

NF type 1 diagnosis

A

2 of the following 7:

  1. CALMS (6+)
  2. axillary and inguinal freckling
  3. Family history (1st degree relative)
  4. Eye hamartomas = lisch nodules (2+)
  5. skeletal anomalies e.g. sphenodysphagia or pseudoarthoses
  6. plexiform neurofibroma or 2+ neurofibroma
  7. Optic tumor (gliomas)
31
Q

NF-1 genetics

A 
Autosomal dominant
(1/2 are sporadic)
32
Q

Trisomy 13 (Patau)

  • triad
  • survival
A 
Triad: midline cleft, cutis aplasia, polydactyly
Other: 
- ocular hypotelorism, 
- microcephaly and cerebral malformation
- bulbous nose
- clinodactyly
- congenital heart disease

only 5% live >6 mo

33
Q

Prader Willi features

A
  • neonatal hypotonia
  • slow infant growth
  • small hands and feet
  • ID
  • hypogonadism
  • hyperphagia leading to severe obesity
34
Q

Rett syndrome

  • gene
  • features
A 
MeCP2 mutation
- normal development until 12 months
Regression of language and motor
Deceleration of head growth
Repetitive hand-wringing movements
Autistic behaviours
35
Q

Sturge-Weber genetics and features

A

Sporadic

Classic findings: leptomeningeal angiomas, facial capillary malformation, abnormal blood vessels of eye –> glaucoma
Other: seizures, hemiparesis, stroke-like episodes, headaches, dev delays

36
Q

Turner syndrome

  • genetics
  • findings in newborns
A
  • complete or partial monosomy of X
  • SGA, webbing neck, protruding ears, lymphedema,
    Cardiac: bicuspid, also coarct,
    renal: horseshoe kidney
37
Q

Tuberous sclerosis

  • Genetics
  • Diagnosis
A

AD

2 major criteria OR 1 major plus 2 minor

38
Q

Tuberous sclerosis surveillance

A

Brain MRI every 1-3 yrs (to monitor for new SEGA)
Renal imaging every 1-3 yr (renal cysts etc. )
Neurodevelopmental testing at grade 1

39
Q

VACTERL (Dx = 3 of component features)

A 
Vertebral
Anorectal
Cardiac
Tracheoesophageal
Renal
Limb

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