Chromosome 17 Trisomy Mosaicism


Trisomy 17 mosaicism is a chromosomal abnormality in which there are three copies of chromosome 17 in some cells of the body, rather than the usual two copies. Trisomy 17 mosaicism is one of the rarest trisomies in humans. It is often incorrectly called trisomy 17 (also referred to as full trisomy 17), which is when three copies of chromosome 17 are present in all cells of the body. Full trisomy 17 has never been reported in a living individual in the medical literature. 


The list of signs and symptoms mentioned in various sources for Chromosome 17 trisomy mosaicism includes the 10 symptoms listed below. Because the proportion and location of cells with trisomy 17 differs from case to case, the presence and severity of signs and symptoms may vary significantly from person to person.

  • Asymptomatic
  • Minor dysmorphism
  • Intra-uterine growth restriction
  • Mental retardation
  • Seizures
  • Attention deficit hyperactivity
  • Autistic disorders
  • Hearing loss
  • Small head
  • Growth retardation


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