FRCPC Genetics Review Flashcards
What does CHARGE stand for?
- Coloboma
- Heart defects
- choAnal Atresia
- Renal anomalies
- Genitourinary anomalies
- Ear malformations
What does VACTERL stand for?
- Vertebral anomalies
- Anal atresia
- Cardiac defects
- TEF/esophageal fistula
- Renal and radial anomalies
- Limb defects
What abnormalities would be expected on the maternal serum screen for a child with down syndrome?
- BCG high
- Unconjugated estriol low
- Inhibin low
- AFP low
What abnormalities would be expected on the maternal serum screen for a child with down syndrome?
- BCG high
- Unconjugated estriol low
- Inhibin low
- AFP low
List 5 clinical manifestations of Prader Willi syndrome
- Hypotonia in infancy with FTT and feeding issues
- Small hands and feet
- Almond shaped eyes
- Cryptorchidism
- Sleep apnea
- Developmental delay
- Obesity after infancy due to voracious appetite
What is the problem in Angelman and PW syndromes?
- Problem is on chromosome 15
- PWS: get maternal imprinting of good gene with father’s mutated gene
- AGS: get paternal impringing of good gene with mother’s mutated gene
- Both can be caused by uniparental disomy
What is uniparental disomy?
When a child inherits two of the same chromosome from one of their parents rather than inheriting one copy from each parent
What does CATCH 22 stand for?
- Cardiac anomalies
- Abnormal facies
- Thymic aplasia
- Cleft palate
- Hypocalcemia
- 22q11 deletion
What does CATCH 22 stand for?
- Cardiac anomalies
- Abnormal facies
- Thymic aplasia
- Cleft palate
- Hypocalcemia/hypoparathyroidism
- 22q11 deletion
List 5 ways to differentiate Noonan syndrome from Turner syndrome
- AD inheritance compared to chromosomal disorder
- 1/3 with developmental delay compared to normal intelligence in Turner syndrome
- Normal menstruation compared to amenorrhea in Turner syndrome
- Noonans affects both sexes
- Noonans has a different pattern of heart disease: more pulmonary stenosis and cardiomyopathy whereas Turner is mostly bicuspid aortic valve and aortic coarctation
How to work up a kid with suspected DiGeorge syndrome? List 5 things.
- ECHO and ECG
- Calcium level, PTH and TSH levels
- CBC and differential, B and T cell subsets
- Flow cytometry, immunoglobulins, T cell function
- Immunology referral to rule out immunodeficiency
- CXR to look for thymus gland and to rule out vertebral anomalies
- Renal ultrasound
- Ophtho assessment
- Audiology
- Assessment of palate and feeding issues
- SLP referral by one year of age
- Monitor growth (risk of GH deficiency)
- Psychiatric assessment when older
List 5 features of Rett syndrome
- Initially normal development followed by regression of developmental milestones with loss of purposeful hand movements and speech
- Features of autism
- Seizures
- Wringing hand movements
- Acquired microcephaly
- Ataxic gait
- Irregular respirations
- Cardiac arrythmias
List 4 non MSK related complications of Marfan Syndrome
- Eyes: ectopia lentis
- Heart: aortic root dilation
- Lungs: spontaneous pneumothorax risk increased
- CNS: Dura ectasia can cause low back pain
List 5 physical examination findings in Turner syndrome
- Lymphedema
- Short stature
- Neck webbing
- Low posterior hairline
- Short 4th metacarpal
- Widely spaced nipples
- Wide carrying angle
- Delayed pubertal development
List 5 facial characteristics of FAS
- Short palpebral fissures
- Increased intercanthal distance
- Flattened face with short nose
- Absent or hypoplastic philtrum
- Bow shaped mouth with thin upper lip
