Genetic Disorders Quiz

Questions and Answers

What is the mode of inheritance for the condition mentioned?

X-linked recessive

Autosomal recessive

Autosomal dominant (correct)

Mitochondrial

Ursodeoxycholic acid (UDCA) is used as a treatment for peripheral pulmonary artery stenosis.

True

What gene is associated with the pediatric condition mentioned?

JAG 1

The most common cardiac defect is _____.

pulmonary valve stenosis Signup and view all the answers

Match the following conditions or treatments with their descriptions:

Ursodeoxycholic acid = Treatment for peripheral pulmonary artery stenosis Cri du chat syndrome = Causes a high pitched cry JAG 1 gene = Related to a pediatric condition Liver transplant = An option for severe liver disease Signup and view all the answers

Which of the following clinical features is associated with Cri du chat syndrome?

All of the above Signup and view all the answers

A liver transplant is a standard treatment for peripheral pulmonary artery stenosis.

False Signup and view all the answers

What chromosome deletion is mentioned in the content?

20p12 deletion Signup and view all the answers

Which of the following syndromes is associated with hypercalcemia?

William Syndrome Signup and view all the answers

Peripheral pulmonary stenosis is a clinical feature of William Syndrome.

True Signup and view all the answers

What is the mode of inheritance for William Syndrome?

Autosomal dominant Signup and view all the answers

In William Syndrome, the most common cardiac defect is __________.

Supravalvular aortic stenosis Signup and view all the answers

Which clinical feature is NOT associated with Alagille syndrome?

Short philtrum Signup and view all the answers

Match the following syndromes with their respective characteristic feature:

Trisomy 18 = Mental retardation William Syndrome = Cocktail personality Alagille Syndrome = Paucity of bile ducts FMR1-related syndrome = Premature ovarian failure Signup and view all the answers

The AAP does not recommend annual cardiology evaluations for patients with Williams syndrome.

False Signup and view all the answers

What biochemical finding is typically seen in patients with Alagille syndrome?

Cholestatic jaundice Signup and view all the answers

Which of the following is NOT a clinical feature of Wolf Hirschhorn syndrome?

Tall stature Signup and view all the answers

Wolf Hirschhorn syndrome is inherited in an autosomal recessive manner.

False Signup and view all the answers

What are common cardiac defects associated with Wolf Hirschhorn syndrome?

VSD, ASD, PDA, TOF Signup and view all the answers

Wolf Hirschhorn syndrome is characterized by a __________ nose.

beaked Signup and view all the answers

Match the following features with their descriptions:

Microcephaly = Reduced head size Feeding difficulties = Trouble with nutrition intake Intellectual disabilities = Limitations in intellectual functioning Hypertelorism = Increased distance between eyes Signup and view all the answers

Which of the following is a common mode of inheritance for Wolf Hirschhorn syndrome?

De novo mutation Signup and view all the answers

Failure to thrive is a clinical feature associated with Wolf Hirschhorn syndrome.

True Signup and view all the answers

What is one distinctive facial feature of Wolf Hirschhorn syndrome?

Greek helmet face Signup and view all the answers

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.