12q14 microdeletion syndrome

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Disease Overview

12q14 microdeletion syndrome is a genetic syndrome caused by a missing piece of chromosome 12. The signs and symptoms depend on the size of the missing piece and the genes involved, but generally include growth delay, short stature and feeding difficulties. When this syndrome is inherited, it is passed on in a dominant pattern. It can be diagnosed through a genetic test, either a chromosomal microarray or whole exome sequencing.[15098][15099][15100]


Synonyms

  • Osteopoikilosis-short stature-intellectual disability syndrome
  • Del(12)(q14)
  • Deletion 12q14
  • Monosomy 12q14

For more information, visit GARD.

National Organization for Rare Disorders