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Ped RC > Genetics > Flashcards

Genetics Flashcards

1
Q

Initial Investigations for DSD?

A

1) Karyotype
2) Adrenal steroids: 17-OPH
3) Gonadal function: LH FSH, T, dihydro-T, AMH
4) Lytes
5) U/S

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2
Q

NF-1: clinical features (mucocutaneous)?

A
  • Lisch nodules
  • Cafe-au-lait spots
  • Neurofibromas
  • skin fold freckling
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3
Q

NF-1: mode of inheritance?

A

AD

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4
Q

NF-1: diagnostic criteria

A

2+ of the following:

  • 6 hyperpigmented café-au-lait macules
  • 2+ neurofibromas or 1 plexiform neurofibroma
  • Axillary or inguinal freckling (often appears in late childhood)
  • Optic glioma (<10 years of age)
  • 2+ Lisch nodules (iris hamartomas, <20 years of age)
  • Tibial pseudoarthrosis or sphenoid dysplasia
  • First-degree relative with NF1 (although a significant percentage are de novo mutations)
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5
Q

Turners: what renal anomaly?

A

Horseshoe kidney

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6
Q

Carnitine palmitoyltransferase II deficiency (CPTII deficiency) -

Type of metabolic D/o
Genetic
Tx

A
  • FA oxidation disorder: Prevents body from using certain fats for energy, especially during fasting
  • Mutation in CPT2 gene → makes enzyme carnitine palmitoyltransferase 2 → essential for FA oxidation
  • Mutation prevents use of FA for metabolism → hypoketotic hypoglycemia, myalgia, weakness. FA & long-chain acylcarnitines (FA + carnitine) may build up in cells and damage liver, heart & muscles
  • Genetic: Rare, AR inheritance, 3 main types
  • Treatment
    1) High-carb (70%) & low fat (<20%) diet : fuel for glycolysis, prevent hypoglycemia and reduce body fat utilization
    • Use of carnitine to convert potentially toxic long-chain acyl-CoAs
      2) Prevent primary manifestations
    • Glucose infusions during intercurrent infections to prevent catabolism
    • Frequent meals + Avoid extended fasting and prolonged exercise
      3) Prevent secondary complications:
    • hydration during episode of rhabdomyolysis & myoglobinuria to prevent renal failure
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7
Q

22q11: clinical features and Dx

A

Dx: Microarray
Features: CATCH 22
1) facial features: short forehead, hooded eyelids, upslanting palpebral fissures, malar flatness, bulbous nasal tip, hypoplastic alae nasi, protuberant ears, VPI (cleft), hypernasal speech, chronic OM, SNHL/CHL
2) congenital heart disease (Conotruncal heart defects, aortic arch anomalies)
3) hypoparathyroidism, hypocalcemia
immune deficiencies: recurrent infections, T-cells low and/or impaired function, autoimmune disease
4) developmental delay. learning disability
psychiatric illness

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8
Q

Myotonic Dystrophy: Types, inheritance, Clinical Feats, Dx

A

Types: I (congenital), II (mid), III (late)
Inheritance: AD

Feats:

1) Characteristic face (Inverted V-shaped upper lip; thin cheeks; Narrow head; high & arched palate)
2) Myotonia
3) Cardiac, GI issues, endo/ID deficiencies

Dx: DNA analysis

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9
Q

Tuberous Sclerosis (TS): mode of inheritence

A

AD

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10
Q

Tuberous Sclerosis: mnemonic for features

A 
ASHLEAF
A- ashleaf spots
S- Shagreens patches
H- Heart Rhabdomyomas
L- Lung Lymphangiomyoma (LAM)
E- Epilepsy from cortical tubers (Inf Sp)
A- Angiomyolipomas - kidney
F- Facial angiofibromas
MRS TUBER HEAD
M-  Mitral Regurg
M- Ment Ret
R- Rhabdomyomas
S- Subependymal nodules
T- TS
H- Hamartomas
E- Ependymoma 
A- Ash leaf lesions 
D- Dominant (autosomal)
     Depigmented lesions
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11
Q

Achondroplasia: mode if inheritance

A

AD

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12
Q

Achondroplasia: clinical features

A 
Face: 
Macroceophaly frontal bossing
Midface hypoplasia 
Neurologic: 
Normal intelligence 
Extremities: 
SHort arms + legs (esp proximally, “rhizomelic shortening”
Bowed legs
Lumbar lordosis 
Trident fingers

Other:
Short stature
Sleep apnea
Foramen Magnum/Spinal stenosis

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13
Q

Achondroplasia : Dx + testing

A

Imaging: Skeletal survey, CT head for Foramen magnum

Lab: Molecular genetic testing for FGR3, sleep study

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14
Q

Achondroplasia: management

A
  • no GH supps
  • AA instability: no contact sports
  • monitor:
  • hearing screens
  • spinal stenosis
  • sleep apnea
  • HC for hydrocephalus
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15
Q

Syndromes with difficult airways

A
  • Treacher Collins:
    - micrognathia
  • PRS:
    - glossooptosis, micro/retrognathia, CP
  • Goldenhar:
    - craniofacial microsomia
  • Russel Silver:
    - triangular face, pointed chin, large forehead
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16
Q

Adrenoleukodystrophy: Mode of inheritance, Clinical Features

A

Mode: X-linked
Features: 5 phenotypes
Most common: childhood ALD

  • Behaviour: hyperactivity (often mistaken for ADHD) & worsening school performance
  • Impaired auditory discrimination, Impaired spatial orientation
  • Visual disturbances (cerebral cortex involvement, seemingly inconsistent visual capacity), strabismus
  • CNS: Ataxia, Seizure (nearly all pts)
  • Adrenal dysfunction
17
Q

What genetic syndrome MOST associated with right aortic arch anomaly and TOF?

A

DiGeorge

18
Q

Denys-Drash:

  • Mode of inheritence
  • Features
  • At risk of what cancer?
A
  • Mode: AD (WT1 mutation)
  • Nephropathy + ambiguous genitalia + bilateral Wilms tumour
    Renal: proteinuria in infancy, nephrotic syndrome and ESRD
  • Wilms: < 2yo, frequently bilateral
19
Q

Macune Albright Syndrome:

  • Mode of inheritence
  • Features
A

Mode:

Features: 
TRIAD of 
1) peripheral precocious puberty (ovarian hyperfunctioning and erratic estrogen secretion)
2) irregular cafe-au-lait macules 
3) fibrous dysplasia of bone.

Associated hyperthyroidism, overgrowth syndrome, cushing syndrome, hypophosphatemic rickets.

20
Q

Wiskott Aldrich Syndrome

1) Mode of Inh
2) Features

A

1) X- linked (WASP mutation)
2) Eczema + petechiae + immunodeficiency (combined T cell and B cell immunodeficiency)
Low platelets and small in size (microthrombocytopenia), eosinophilia, elevated IgE

21
Q

Williams syndrome: cardiac anomaly?

A
  • Supravalvular aortic stenosis may be sporadic, familial, or associated with Williams Syndrome → can present with critical aortic stenosis (LV failure, low CO)
22
Q

Williams Syndrome: features

A
  • Characterized by elfin facies (full face, broad forehead, flattened nasal bridge, long upper lip, rounded cheeks)
  • Spasticity, hypoplastic nails, dental anomalies, joint hypermobility
  • Idiopathic hypercalcemia of infancy, nephrocalcinosis, hypothyroidism, hypersensitivity to sound, poor weight gain
23
Q

VACTERL: what and mode of transmission

A 
VACTERL association, at least 3 of:
Vertebral defects
Anal atresia
Cardiac defects
Tracheo-Esophageal fistula
Renal anomalies
Limb abnormalities
Unclear genetic etiology; occurs sporadically; diagnosis is clinical
Management is mostly symptomatic
24
Q

Turners: cardiac anomaly

A

Bicuspid AV

Coarct

25
Q

Syndromes associated with Choanal Atresia

A

CHARGE syndrome (most common), Treacher-Collins, Kallmann syndrome, VACTER association

26
Q

CHARGE syndome

A

coloboma, h eart disease, a tresia or stenosis of the choanae, r etarded growth and development or central nervous system (CNS) anomalies or both, g enital anomalies or hypogonadism or both, and e ar [external, middle, inner ear] anomalies or deafness or both

27
Q

Rhabdomyoma - associated with what ?

A

TS

28
Q

PWS:
Clinical Presentation
Lab testing

A

Clinical:

  • Face: Bitemporal narrowing, Triangular mouth
  • Neurologic: Hypotonia, Global developmental delay, Mild to moderate intellectual disability, Behavior problems (compulsive, stubborn)
  • GI: Feeding difficulties, Hyperphagia in childhood
  • GU: Hypoplastic genitalia
  • Endocrine: Delayed puberty, Short stature, Osteoporosis
  • Extremities: Small hands/feet
  • Poor growth in early childhood, obesity in late childhood/adolescence

Laboratory testing
Methylation testing of Prader-Willi critical region on chr 15 (cytogenetics)
Annual TFTs

29
Q

Russel Silver Syndrome: CF

A

IUGR/ FTT, short stature, triangular face (prominent forehead and pointed chin), clinodactyly, hypospadias, hypoglycemia

30
Q

Cafe-au-lait : syndromes

A

NF1, NF2, McCune-Albright syndrome

Weak: Ataxia-telangiectasia, Fanconi anemia, Russell-Silver, tuberous sclerosis, Turner, Noonan, MEN1, MEN2, Kabuki

31
Q

BWS: features, genetic defect, at risk for what tumours

A

Somatic overgrowth syndrome, defect on ch11 imprinting centres

Macrosomia, hemihypertrophy, organomegaly, macroglossia, omphalocele, umbilical hernia, hyperinsulinism (Transient)

At risk for: Wilms, hepatoblastoma, neuroblastoma, rhabdomyosarcoma

32
Q

Noonan: cardiac anomalies

A

80% of patients with NS have cardiac involvement - most common is PV stenosis; ASDs also frequent, 20% have hypertrophic cardiomyopathy

33
Q

Marfan: Mode of inh, features

A

AD

Features include hyperextensible joints, pectus excavatum or carinatum, murmur (mitral valve prolapse), aortic dilation/dissection, tall stature, large armspan, long face, malar hypoplasia, high arch palate with dental crowding, positive wrist/thumb sign, pneumothorax, scoliosis

34
Q

G6PD vs H Spherocytosis - mode of inheritence

A

AD (HS) vs G6PD (X-linked)

35
Q

Fragile X: mode of inh, features

A

X-linked
Face: long narrow face, large ears, prominent jaw, tall forehead
Neuro: intellectual disability (most common inherited intellectual disability), speech delay, ADHD, anxiety
GU: macroorchidism

36
Q

Galactosemia:

  • deficiency
  • Presentation
  • Dx
  • Tx
A
  • GALT (galactose-1-phosphate uridyltransferase) deficiency
    Presents first few days/weeks of life
    • Vomiting, hyperbilirubinemia, poor weight gain
    • Cataracts, liver failure,, renal tubular acidosis, E. coli sepsis, language delay
  • Diagnosis: direct enzyme assay using erythrocytes
  • Tx: Galactose-free diet
37
Q

Waardenburg Syndrome - associated with what

A
  • characterized by pigmentary abnormalities of the hair, skin, and eyes (e.g. congenital heterochromia, white forelock). There are 4 types of Waardenburg syndrome.
  • Congenital deafness occurs in 1/5 patients (sensorineural as per OMIM). Occasional findings include cleft lip and palate, and neural tube defects (e.g. spina bifida, myelomeningocele)
38
Q

Marfan Syndrome: inheritance + exam findings

A 
AD inheritance
– Positive thumb sign
– Pectus excavatum
– Scoliosis
– Long arms

Ped RC (9 decks)

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