Podcast
Questions and Answers
Which of the following are autosomal aberrations? (Select all that apply)
Which of the following are autosomal aberrations? (Select all that apply)
Which of these conditions is associated with sex chromosome aberrations?
Which of these conditions is associated with sex chromosome aberrations?
Down syndrome is caused by a translocation of chromosomes.
Down syndrome is caused by a translocation of chromosomes.
True
What is the average prevalence of Down syndrome?
What is the average prevalence of Down syndrome?
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The wide gap between the first and second toes in newborns with Down syndrome is known as a ______.
The wide gap between the first and second toes in newborns with Down syndrome is known as a ______.
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Which of the following is NOT a physical characteristic of Down syndrome?
Which of the following is NOT a physical characteristic of Down syndrome?
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What is the major cognitive impact associated with Down syndrome?
What is the major cognitive impact associated with Down syndrome?
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Match the following types of Down syndrome with their descriptions:
Match the following types of Down syndrome with their descriptions:
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Study Notes
Autosomal Aberrations
- Down syndrome is characterized by an extra chromosome 21, leading to various physical and intellectual challenges.
- Translocation Down syndrome occurs when a portion of chromosome 21 becomes attached to another chromosome.
- Patau syndrome (Trisomy 13) is associated with severe intellectual disability and numerous physical abnormalities.
- Edward's syndrome (Trisomy 18) results in low birth weight and multiple organ system defects.
- Cat's cry syndrome (Cri du Chat syndrome) involves a deletion on chromosome 5, resulting in a characteristic high-pitched cry and developmental issues.
Allosomal Aberrations
- Fragile X syndrome is linked to variations in the FMR1 gene on X chromosome, causing intellectual disability and developmental delays.
Down Syndrome Characteristics
- Common physical traits include brachycephaly, facial flatness, arched palate, and specific ear abnormalities.
- Newborns often exhibit a sandal gap between the first and second toes, epicanthal folds, and macroglossia (large tongue).
- Assessment of intellectual disability ranges from mild (IQ 50-69) to moderate (IQ 35-49) and occasionally severe (IQ 20-34).
- The prevalence of Down syndrome is approximately 1 in every 787 live births, translating to 10.3 cases per 10,000 newborns.
Down Syndrome Studies
- Recent reviews on trisomy 21 mosaicism indicate varying degrees of intellectual impairment and physical traits.
- Genetic studies highlight maternal gene factors influencing the likelihood of Down syndrome, such as MTHFR gene variations.
- Clinical analyses compare modes of ascertainment between complete trisomy and translocation Down syndrome.
Clinical Considerations
- Early identification and intervention are crucial for managing health, educational, and social needs of individuals with Down syndrome.
- Family physicians play a significant role in the comprehensive care of children with Down syndrome, addressing both medical and developmental aspects.
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Description
Test your knowledge on autosomal and allosomal aberrations affecting the genitourinary tract and fertility. This quiz covers important syndromes like Down syndrome, Patau syndrome, and fragile X syndrome. Perfect for students and professionals in genetics and medicine.
