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The term "18q-" or Distal 18q- deletion syndrome represents a rare chromosomal disorder where a portion of the long arm (q) of chromosome 18 is missing. This deletion, which occurs in the genetic makeup, leads to a wide variety of developmental, physical, and cognitive challenges.
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Because the deletion can occur anywhere along the long arm, the symptoms can range from mild to severe. Common characteristics identified by medical literature include: 1. Physical and Craniofacial Features
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The Chromosome 18 Registry is a key resource for families seeking information on distal 18q- deletions. Key Clinical Features and Associated Symptoms
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