Course 14: The Genetics of Vascular Anomalies Quiz

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Question 1 of 9

1. Question
A 10 year old boy with autism, macrocephaly, and multiple lipomas was referred for genetic evaluation and you have established the diagnosis. One of the parents is also affected. What is the next step?
- Establishing surveillance for your patient and the affected parent and suggest that the affected parent contacts his first degree relatives for genetic evaluation and testing.
- PTEN sequencing and deletion/duplication test in skin of the affected in the family will provide prognosis
- Total thyroidectomy for the patient and the affected parent.
- Detailed clinical examination with measurement of the circumference of extremities and imaging studies of the brain and abdomen for all affected.
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Question 2 of 9

2. Question
Your patient reports a history of frequent nosebleeds and the same in many of his relatives, as well as the unexplained sudden death of his 12-year-old brother.
- You refer to a different ENT for another opinion when nosebleed recurs.
- You order genetic test and imaging of lungs and abdomen.
- You counsel your patient that he likely has a multifactorial condition.
- You counsel your patient that he likely has a sporadic (new mutation) condition.
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Question 3 of 9

3. Question
A female infant is referred for evaluation of a hemagioma of 1 cm diameter on right shoulder. Which of the following statements is true?
- Detailed clinical examination with measurement of the circumference of extremities will provide prognosis.
- An immediate excision is necessary because the hemangioma is malignant.
- The patient should be tested for mutations in VEGFR2, VEGFR3, and DUSP5.
- The patient and her parents have higher than the population risk for offspring with hemangioma.
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Question 4 of 9

4. Question
Your patient, a 22-year-old male with Proteus diagnosis that fulfills the clinical criteria, wants to father a child. The genetic counseling should include the following:
- Finding of an AKT1 mutation will establish autosomal dominant inheritance.
- Proteus can be due to mosaicism for an AKT1 or a PTEN mutation. The patient can transmit a PTEN mutation which will be germline in the offspring and associated with a syndrome.
- The patient is infertile.
- Detailed clinical examination with measurement of the circumference of extremities and imaging studies of the brain and abdomen will determine the genetic diagnosis.
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Question 5 of 9

5. Question
A 10-year-old boy with autism, macrocephaly, and multiple lipomas was referred for genetic evaluation and you have established the diagnosis. What is the next step?
- PTEN sequencing and deletion/duplication test in skin of the affected in the family will provide prognosis.
- Detailed clinical examination with measurement of the circumference of extremities and imaging studies of the brain and abdomen for all affected .
- Establish surveillance for your patient and examine and test the parents .
- Total thyroidectomy for the patient and the affected parent.
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Question 6 of 9

6. Question
A 10-year-old boy with autism, macrocephaly, and multiple lipomas is referred for genetic evaluation. What is the first step?
- Penile freckling establishes the diagnosis
- Evaluation for congenital heart defects by echocardiography
- Detailed clinical examination with measurement of the circumference of extremities and imaging studies of the brain and abdomen.
- PTEN sequencing and deletion/duplication test in blood.
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Question 7 of 9

7. Question
The patient has many blue-colored and easily compressible skin macules. What is the next step in the evaluation?
- Evaluation for congenital heart defects by echocardiography
- Genetic testing for gain or loss of function mutations in TIE in blood
- PTEN sequencing in blood
- Detailed clinical examination with measurement of the circumference of extremities and imaging studies of the brain and abdomen .
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Question 8 of 9

8. Question
What is the next step in the evaluation of a baby with a facial port wine stain and glaucoma?
- Evaluation for congenital heart defects by echocardiography
- Imaging studies of the brain
- Abdominal ultrasound for hepatic vascular tumors
- Genetic testing for mutations in GNAQ in blood
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Question 9 of 9

9. Question
Why do we study the genetics of non-syndromic (isolated) vascular anomalies?
- Genetic testing should be accessible to patients because of autosomal dominant inheritance and good genotype-phenotype correlation.
- We can infer prognosis from the results of the genetic tests
- Diagnosis is based on the genotype.
- Identification of genes associated with vascular anomalies may lead to novel pharmacologic treatments.
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