DiGeorge Syndrome is characterized by which of the following?

Prepare for the NEET Pediatrics Test. Study with flashcards and multiple choice questions, each question has hints and explanations. Get ready for your exam!

DiGeorge Syndrome is characterized by the CATCH-22 acronym, which highlights the key features associated with the condition. Each letter in the acronym stands for a specific aspect:

  • C: Cardiac defects
  • A: Abnormal facies

  • T: Thymic hypoplasia/aplasia (leading to immune deficiency)

  • C: Cleft palate

  • H: Hypoparathyroidism (which results in hypocalcemia)

The "22" refers to the chromosomal deletion that occurs on chromosome 22, specifically at the q11 region, which is where the genetic anomaly leading to DiGeorge Syndrome is located. This deletion can lead to the various developmental and health issues associated with the syndrome.

In contrast, other options such as Down syndrome, Turner syndrome, and Fragile X syndrome are different genetic disorders with distinct features and chromosomal abnormalities. Down syndrome is associated with trisomy 21, Turner syndrome involves a missing or incomplete X chromosome, and Fragile X syndrome is linked to a mutation in the FMR1 gene on the X chromosome, which affects cognitive development. Understanding these distinctions highlights why the CATCH-22 acronym and the identification of chromosome 22 as crucial to DiGeorge Syndrome is the correct answer.

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