Mosaic trisomy 14
Other Names for this Disease
- Mosaic trisomy chromosome 14
- Trisomy 14 mosaicism
- 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.
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.
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.
- Trisomy 14 mosaicism. Unique. 2008; http://www.rarechromo.org/information/Chromosome%2014/Trisomy%2014%20mosaicism%20FTNW.pdf. Accessed 11/14/2012.
- Chromosome 14, Trisomy Mosaic. NORD. May 26, 2008; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/999/viewAbstract. Accessed 11/13/2012.