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Question

Trisomy 13 is also known as:

The correct answer is
Patau syndrome

Trisomy 13 Identification: Patau Syndrome Explained

Trisomy 13 is a genetic condition characterized by the presence of an extra copy of chromosome 13 in cells. This condition is commonly referred to as Patau syndrome.

Understanding Chromosomal Abnormalities

Let's clarify the options:

  • Patau syndrome: This is the correct alternative name for Trisomy 13.
  • Edward syndrome: This is the name for Trisomy 18, which involves an extra copy of chromosome 18.
  • Turner syndrome: This condition affects females and results from a missing or partially missing X chromosome (genotype typically 45,X).
  • Williams syndrome: This is a developmental disorder caused by a deletion on chromosome 7, affecting multiple systems.

Therefore, the correct identification for Trisomy 13 among the given options is Patau syndrome.

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Important Questions from Congenital Disorders

  1. Which of the following is NOT a maternal risk factor for the development of a neural tube defect?

  2. Which one of the following is a type of glycogen storage disease?
  3. Which of the following biochemical tests for the detection of aneuploidies is performed in the first trimester of pregnancy?

  4. Which of the following is NOT a birth defect related to a disorder in the development of the whole eyeball?

  5. Which of the following types of tracheoesophageal fistulae is the most common?
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