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Questions and Answers
What is the mode of inheritance for the condition mentioned?
What is the mode of inheritance for the condition mentioned?
Ursodeoxycholic acid (UDCA) is used as a treatment for peripheral pulmonary artery stenosis.
Ursodeoxycholic acid (UDCA) is used as a treatment for peripheral pulmonary artery stenosis.
True
What gene is associated with the pediatric condition mentioned?
What gene is associated with the pediatric condition mentioned?
JAG 1
The most common cardiac defect is _____.
The most common cardiac defect is _____.
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Match the following conditions or treatments with their descriptions:
Match the following conditions or treatments with their descriptions:
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Which of the following clinical features is associated with Cri du chat syndrome?
Which of the following clinical features is associated with Cri du chat syndrome?
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A liver transplant is a standard treatment for peripheral pulmonary artery stenosis.
A liver transplant is a standard treatment for peripheral pulmonary artery stenosis.
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What chromosome deletion is mentioned in the content?
What chromosome deletion is mentioned in the content?
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Which of the following syndromes is associated with hypercalcemia?
Which of the following syndromes is associated with hypercalcemia?
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Peripheral pulmonary stenosis is a clinical feature of William Syndrome.
Peripheral pulmonary stenosis is a clinical feature of William Syndrome.
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What is the mode of inheritance for William Syndrome?
What is the mode of inheritance for William Syndrome?
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In William Syndrome, the most common cardiac defect is __________.
In William Syndrome, the most common cardiac defect is __________.
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Which clinical feature is NOT associated with Alagille syndrome?
Which clinical feature is NOT associated with Alagille syndrome?
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Match the following syndromes with their respective characteristic feature:
Match the following syndromes with their respective characteristic feature:
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The AAP does not recommend annual cardiology evaluations for patients with Williams syndrome.
The AAP does not recommend annual cardiology evaluations for patients with Williams syndrome.
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What biochemical finding is typically seen in patients with Alagille syndrome?
What biochemical finding is typically seen in patients with Alagille syndrome?
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Which of the following is NOT a clinical feature of Wolf Hirschhorn syndrome?
Which of the following is NOT a clinical feature of Wolf Hirschhorn syndrome?
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Wolf Hirschhorn syndrome is inherited in an autosomal recessive manner.
Wolf Hirschhorn syndrome is inherited in an autosomal recessive manner.
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What are common cardiac defects associated with Wolf Hirschhorn syndrome?
What are common cardiac defects associated with Wolf Hirschhorn syndrome?
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Wolf Hirschhorn syndrome is characterized by a __________ nose.
Wolf Hirschhorn syndrome is characterized by a __________ nose.
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Match the following features with their descriptions:
Match the following features with their descriptions:
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Which of the following is a common mode of inheritance for Wolf Hirschhorn syndrome?
Which of the following is a common mode of inheritance for Wolf Hirschhorn syndrome?
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Failure to thrive is a clinical feature associated with Wolf Hirschhorn syndrome.
Failure to thrive is a clinical feature associated with Wolf Hirschhorn syndrome.
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What is one distinctive facial feature of Wolf Hirschhorn syndrome?
What is one distinctive facial feature of Wolf Hirschhorn syndrome?
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Study Notes
Trisomy 18 (Edwards Syndrome)
- Characterized by the presence of an extra chromosome 18.
- Commonly leads to severe developmental delays and organ defects.
FMR1 Gene
- Associated with Fragile X syndrome.
- 200 CGG repeats can result in premature ovarian failure.
Williams Syndrome
- Inheritance: Autosomal dominant.
- Laboratory findings include hypercalcemia.
- Most common cardiac defect: Supravalvular aortic stenosis (80% prevalence).
- Clinical features:
- Peripheral pulmonary stenosis.
- Long philtrum and broad mouth.
- Short nose with a bulbous tip.
- Eye problems: Strabismus, stellar irises.
- Behavioral traits: Known as 'cocktail personality.'
- Associated with mental retardation.
- Recommended evaluations: Annual cardiology assessments due to joint laxity.
Alagille Syndrome
- Inheritance: Autosomal dominant, caused by a deletion at 20p12.
- Gene implicated: JAG1.
- Clinical features:
- Triangular face with a pointed chin.
- Long nose and cholestatic jaundice.
- Paucity of bile ducts evident in liver biopsy.
- Butterfly vertebrae noted in skeletal assessments.
- Most common cardiac defect: Peripheral pulmonary artery stenosis and pulmonary valve stenosis.
- Treatment options include Ursodeoxycholic acid (UDCA) and liver transplant.
Cri Du Chat Syndrome
- Caused by a deletion on chromosome 5 (5p deletion).
- Distinguishing clinical features:
- High-pitched, cat-like cry due to anatomical changes in the larynx.
- Moon face with widely spaced eyes and a flat nasal bridge.
- Symptoms include hypotonia, down-slanting palpebral fissures, and microcephaly.
- Inheritance: De novo mutation.
- Associated with feeding difficulties and intellectual disabilities.
- Common cardiac defects include VSD, ASD, PDA, and TOF.
Wolf-Hirschhorn Syndrome
- Characterized by:
- Microcephaly.
- Hypertelorism (wide-set eyes).
- Prominent glabella and frontal bossing.
- Known for the “Greek helmet” facial appearance.
- Features a beaked nose indicative of the syndrome.
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Description
Test your knowledge on various genetic disorders including Trisomy 18, Fragile X syndrome, and Williams syndrome. This quiz will cover their inheritance patterns, symptoms, and laboratory findings. Ideal for students studying genetics in biology or medical fields.
