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Genetic and Rare Diseases Information Center (GARD)

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Mosaic trisomy 14

Other Names for this Disease
  • Mosaic trisomy chromosome 14
  • Trisomy 14 mosaicism
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What are the signs and symptoms of mosaic trisomy 14?

The effects of mosaic trisomy 14 can vary considerably among affected individuals. Some children with mosaic trisomy 14 grow into healthy, if small, children. Others may have continued difficulty thriving.[1] Those that have a low percentage of affected cells may have fewer and/or less severe symptoms than those with a high percentage of affected cells.[2] Some of the more commonly reported characteristics of the condition include:[2][1]
  • intrauterine growth restriction
  • feeding difficulties
  • failure to thrive
  • some degree of developmental delay or intellectual disability
  • slightly asymmetrical growth
  • abnormal skin pigmentation
  • structural defect(s) of the heart such as tetralogy of Fallot
  • minor genital abnormalities in boys such as undescended testes
  • distinctive facial characteristics such as a prominent forehead; widely spaced eyes; a broad nasal bridge; low-set, malformed ears; a small lower jaw; a large mouth and thick lips; eye abnormalities; or abnormality of the roof of the mouth (palate)

Skeletal abnormalities have also been reported and include dislocation of the hips; overlapping of certain fingers or toes; and/or other features.[2]

Last updated: 11/16/2012

  1. Trisomy 14 mosaicism. Unique. 2008; Accessed 11/14/2012.
  2. Chromosome 14, Trisomy Mosaic. NORD. May 26, 2008; Accessed 11/13/2012.