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Xq27.3q28 duplication syndrome

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

Xq27.3q28 duplication syndrome is a recently described syndrome characterized by short stature, hypogonadism, developmental delay and facial dysmorphism.

Synonyms

  • Xq27.3-q28 microduplication syndrome
  • chromosome Xq27.3-q28 DUPLICATION syndrome
  • chromosome xq27.3-q28 duplication syndrome, X-linked recessive
  • dup(X)(q27.3q28)
  • trisomy Xq27.3-q28
  • trisomy Xq27.3q28Xq27.3-q28 microduplication syndrome
  • chromosome Xq27.3-q28 DUPLICATION syndrome
  • chromosome xq27.3-q28 duplication syndrome, X-linked recessive
  • dup(X)(q27.3q28)
  • trisomy Xq27.3-q28
  • trisomy Xq27.3q28
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