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RC Review > Genetics > Flashcards

Genetics Flashcards

1
Q

WAGR syndrome

A

Wilm’s Tumour
Aniridia (no iris)
GU abnormalities
Mental retardation

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2
Q

Teratogenic Exposures

A
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3
Q

Trisomy 21 Recurrence Risk

A
  • nondisjunction - additional 1% risk on maternal age related risk
  • paternal 21:21 translocation - 100%
  • paternal 21:14 translocation - 5%
  • maternal 21:14 translocation - 15%
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4
Q

Trisomy 13 & 18

A
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5
Q

Differential Diagnosis of Craniosynostosis

A
  • Crouzon (prominent forehead, beaked nose, prognathism, hypertelorism, cleft lip/palate, midface hypoplasia, proptosis)
  • Pfeiffer (hearing loss, pollux/hallux - big toe - varus, +/-syndactyly
  • Apert (hearing loss, prominent syndactyly)
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6
Q

Turner vs. Noonan

A
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7
Q

Inheritance of Fragile X

A

tri-nucleotide repeat expansion, X-linked?

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8
Q

Diagnostic criteria for NF1

A

2+ of the following:
- 6 CALM (5mm children, 15mm pubertal)
- 2+ neurofibromas or 1 plexiform neurofibroma
- axillary or inguinal freckling
- optic glioma (< 10)
- 2+ lisch nodules
- tibial pseudoarthrosis or sphenoid dysplasia
- first-degree relative with NF1

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9
Q

Malignancies associated with NF1

A
  • gliomas
  • leukemia
  • pheochromocytoma
  • JMML
  • breast cancer
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10
Q

Surveillance of NF1

A
  • annual ophthalmology
  • annual physical exam
  • MRI only if symptomatic
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11
Q

Natural History of Achondroplasia

A
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12
Q

Clinical Features of Alagille Syndrome

A
  • AD - JAG1/NOTCH2
  • neonatal cholestasis due to paucity of bile ducts
  • peripheral pulmonary stenosis
  • butterfly vertebrae
  • triangular facies
  • posterior embryotoxon
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13
Q

Surveillance for Turner Syndrome

A
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14
Q

Tumour Surveillance for BWS

A
  • Abdominal US every 3 months until 8 years
  • AFP levels every 3 months until 4 years
  • Annual RBUS from 8 years to adolescence
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15
Q

CHARGE Syndrome

A
  • coloboma
  • congenital heart disease (conotruncal or arch abnormalities)
  • choanal atresia
  • retardation of growth and development
  • genitourinary abnormalities (horseshoe kidney, cryptorchidism, microphallus, pubertal delay)
  • Ear and extremity abnormalities - semi-circular abnormality, deafness, clubfoot, absent tibia)
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16
Q

Features of Cornelia de Lange Syndrome

A
  • upturned nose
  • unibrow
  • long eyelashes
  • low ears
  • GERD
  • upper limb differences (small hands, missing fingers/forearms)
  • cleft palate
  • diaphragmatic hernia
  • vision and hearing problems
  • excessive body hair
  • heart defects
  • seizures
  • self-injury, ADHD
  • developmental delay
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17
Q

Denys-Drash Syndrome

A
  • Wilm’s Tumour (90%) - prophylactic nephrectomy recommended
  • Abnormal kidney function - presents as nephrotic syndrome and HTN (diffuse mesangial sclerosis, renal failure)
  • DSD (males) - infertile, risk of malignancy
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18
Q

Features of 22q11.2 Deletion Syndrome

A
  • AD inheritance
  • developmental delay/psychiatric disorders
  • Cardiac - TOF/conotruncal defects, interrupted aortic arch
  • abnormal facial features (hooded eyelids, abnormal auricles, bulbous nose with anteverted nares, asymmetric crying faces)
  • thymus - immune deficiencies
  • cleft palate
  • Hypocalcemia due to hypopara
19
Q

Features of FASD

A
  • cardiac: VSD, ASD, conotruncal heart defects
  • Skeletal: joint flexion contractures, pectus, vertebral defects, clinodactyly of the 5th finger
  • renal: aplastic, dysplastic, hypoplastic, horseshoe
  • ocular: strabismus, ptosis, retinal vascular anomalies
  • auditory: CHL or SNHL
  • facial features: smooth philtrum, thin upper vermillion, short palpebral fissures, microcephaly - if all 3 present, do not need prenatal alcohol exposure
  • developmental delay, impairment in functioning, ADHD (need severe impairment in 3+ domains)
20
Q

Galactosemia Features

A
  • onset of symptoms by 2nd half of 1st week of life (day 4-7)
  • vomiting, feeding intolerance
  • cataracts
  • liver failure
  • jaundice (unconjugated –> conjugated)
  • hepatomegaly
  • hypoglycemia
  • E. coli sepsis**
  • expressive language delay
21
Q

Diagnosis of Galactosemia

A
  • elevated galactose and galactose-1-phosphate in blood
  • elevated urine galactitol
  • elevated urine reducing substances
  • confirmation of diagnosis: direct enzyme assays using erythrocytes
  • gene testing with GALT gene
22
Q

Klinefelter Syndrome

A
  • XXY
  • micropenis, cryptorchidism, hypospadias, clinodactyly
  • pubertal delay
  • infertility
  • small, firm testes (< 5ml), small phallus
  • tall stature
  • adolescent gynecomastia
23
Q

Leigh Syndrome

A

Mitochondrial DNA
Neurologic disease with demyelination, gliosis, necrosis, neuronal sparing and capillary proliferation

  • lactic acidosis (treat with NaHCO3)
  • FTT
  • hypotonia
  • peripheral neuropathy
  • hypertrophic cardiomyopathy
  • seizures (avoid VPA)

Investigations:
- mitochondrial genome molecular genetic testing
- blood + cerebrospinal fluid (CSP) lactate levels
- muscle biopsy
- respiratory chain enzyme studies
- MRI shows bilateral symmetric hypodensities in the basal ganglia

Poor prognosis, 50% mortality before 1.5 years of age

24
Q

Tuberous Sclerosis Criteria

A

2 major OR 1 major + 2 minor OR pathogenic mutation in TSC1/2

MAJOR
- cortical dysplasia
- subependymal nodules
subependymal giant cell astrocytoma
- facial angiofibromas (>/= 3) or forehead plaque
- ungual fibromas (>/= 2)
- hypomelanotic macules (>/= 3, > 4 mm in diameter)
- Shagreen patch
- Multiple retinal nodular hamartomas
- cardiac rhabdomyoma
- renal angiomyolipoma
- pulmonary lymphangioleiomyomatosis

MINOR
- dental enamel pits (>3)
- Intraoral fibromas (>/= 2)
- retinal achromic patch
- confetti skin lesions
- nonrenal hamartomas
- multiple renal cysts

25
Q

Surveillance for TS

A
  • Brain MRI q3 years
  • Renal imaging
  • ECHO for rhabdomyomas
  • EEG for infantile spasms/seizures
  • dental exam twice a year
  • annual physical for skin exam, ophthalmology, screening for psychiatric disorder
26
Q

Surveillance of PWS

A

annual thyroid function tests

27
Q

Triad of Prune Belly Syndrome/Eagle Barrett Syndrome/Triad Syndrome

A
  • abdominal wall laxity (deficient muscle)
  • urinary tract dilation (bilateral hydroureteronephrosis, tortuous dilated ureters, large distended bladder)
  • bilateral cryptorchidism
28
Q

Features of Waardenburg Syndrome

A

AD, WS1 gene
- hair furlock
- hearing
- hypertelorism
- heretrochromia
- hirschsprung

29
Q

Features of William’s Syndrome

A

HEENT
- esotropia/hyperopia
- SNHL, hypersensitivity to sound
- dental issues
- microcephaly

CARDIAC
- SVAS

GU
- structural bladder issues
- nephrocalcinosis
- enuresis

GI
- feeding issues
- constipation/rectal prolapse
- colon diverticula

MSK
- hypermobile/contractures
- kyphosis/scoliosis/lordosis

Calcium
- hypercalcemia/hypercalciuria

ENDO
- hypoT
- early puberty
- DM
- obesity

NEURO
- hyperactive DTRs
- chairi I
- central hypotonia
- peripheral hypertonia

Cognitive
- Dev Delay +/- ID
- impaired visuospatial constructive cognition

Behavioural
- ADHD
- Anxiety
- Sleep issues
- “cocktail personality”

30
Q

Features of NF2

A

Clinical diagnosis is made by fulfilling one of the follow­ing sets of criteria:
* Bilateral vestibular schwannomas
* First-degree relative with NF2 and a unilateral schwan­noma or any two of the following: meningioma, schwannoma, glioma, neurofibroma, posterior subcap­ sularlenticularopacities
* Unilateral schwannoma and any two of those listed previously
* Multiple meningiomas and unilateral schwannoma or any two of the following: schwannoma, glioma, neurofibroma, cataract
* Other features include hearing loss, tinnitus, balance difficulties, mononeuropathy, and cafe-au-lait macules

31
Q

Surveillance of NF2

A

Annual Brain MRI > age 10

32
Q

Marfan vs. EDS

A
33
Q

Classification of OI

A
  • OI type 1: classic nondeforming or with blue sclerae
  • OI type II: perinatally lethal OI
  • OI type III: progressively deforming OI
  • OI type IV: common variable OI with normal sclerae
34
Q

Treacher-Collins Syndrome

A

AD mutation in TCOF 1
- eyelid colobomas
- sparse eye­ lashes
- microretrognathia
- choanal atresia
- microtia

35
Q

Pierre Robin Sequence

A

micrognathia
glossoptosia
airway obstruction

36
Q

Goldenhar Syndrome

A
  • facial asymmetry
  • microtia
  • preauricular tags
  • microphthalmia
  • cleft lip/palate
37
Q

Russell-Silver Syndrome

A
  • postnatal growth restriction (normal head circumference)
  • PTT
  • feeding difficulties,
  • triangular facies with a prominent forehead and pointed chin
  • clinodactyly
  • Males can have cryptorchidism and micropenis
  • abnormal methylation of 11p15.5 and UPD of chromosome 7
38
Q

Common genetic conditions - just review this table!

A
39
Q

Maternal Diabetes

A
  • caudal regression (Type 1/Type 2)
  • arthrogryposis
  • duplex ureter
  • neural tube defects
  • Small left colon syndrome
  • hypertrophic cardiomyopathy
40
Q

CCHS

A
  • central apnea (cannot detect CO2)
  • PHOX2B mutation
  • at risk of arrhythmias - need a holter
  • at risk for neuroblastoma
  • Hirschsprung’s
41
Q

Maternal PKU

A
  • IUGR
  • microcephaly
  • CHD
  • hyperactivity
    due to maternal metabolic control, goal < 360 mcmol/L, independent of child’s status
42
Q

PHACE Syndrome

A
  • posterior fossa
  • hemangioma
  • arterial abnormalities
  • cardiac
  • eyes
43
Q

High Risk Infantile Hemangiomas

A
44
Q

Segmental Hemangiomas

A

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