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Diseases

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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Symptoms

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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

The Human Phenotype Ontology provides the following list of signs and symptoms for Mosaic trisomy 14. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms.

Signs and Symptoms Approximate number of patients (when available)
Abnormality of chromosome segregation 90%
Cognitive impairment 90%
Frontal bossing 90%
Malformation of the heart and great vessels 90%
Micrognathia 90%
Prominent nasal bridge 90%
Short neck 90%
Short stature 90%
Wide mouth 90%
Anteverted nares 50%
Blepharophimosis 50%
Cleft palate 50%
Cryptorchidism 50%
Displacement of the external urethral meatus 50%
Ectopic anus 50%
Hypertelorism 50%
Hypoplasia of penis 50%
Low-set, posteriorly rotated ears 50%
Narrow chest 50%
Seizures 50%
Single transverse palmar crease 50%
Abnormality of the ribs 7.5%
Aplasia/Hypoplasia affecting the eye 7.5%
Camptodactyly of finger 7.5%
Lower limb asymmetry 7.5%
Ptosis 7.5%

Last updated: 12/1/2014

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.


References
  1. Trisomy 14 mosaicism. Unique. 2008; http://www.rarechromo.org/information/Chromosome%2014/Trisomy%2014%20mosaicism%20FTNW.pdf. Accessed 11/14/2012.
  2. Chromosome 14, Trisomy Mosaic. NORD. May 26, 2008; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/999/viewAbstract. Accessed 11/13/2012.


Other Names for this Disease
  • Mosaic trisomy chromosome 14
  • Trisomy 14 mosaicism
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.