Chromosome 14 trisomy
Overview
A rare chromosomal disorder involving duplication of genetic material from chromosome 14 resulting in various abnormalities.
Symptoms
* Small head * Prominent forehead * Small jaw * Asymmetrical face * Low set ears * Dysplastic ears * Widely spaced eyes * Deeply set eyes * Small eyes * Translucent film over eyes * Downward slanting space between eyelids * Wide nasal bridge * Long philtrum * Wide mouth * Thick lips * Cleft palate * Highly arched palate * Short neck * Wide neck * Hand flexion contractures * Hip dislocation * Hyperpigmentation * Incontinentia pigmenti * Tetralogy of Fallot * Atrial septal defect * Undescended testes * Small penis * Renal insufficiency * Growth retardation * Motor retardation * Mental retardation * Failure to thrive
Causes
Approximately 75% of all cases of trisomy 13 syndrome are caused by chromosomal nondisjunction. About 20% are due to chromosomal translocation involving a rearrangement of chromosomes 13 and 14. About 5% are estimated to be mosaics; the clinical effects in these cases may be less severe. Incidence is estimated to be 1 in every 5,000 neonates. The risk of chromosomal abnormalities typically increases with advanced maternal age; however, the mean maternal age for this abnormality is about 31 years.
Diagnosis
This medical information about signs and symptoms for Chromosome 14 trisomy syndrome has been gathered from various sources, may not be fully accurate, and may not be the full list of Chromosome 14 trisomy syndrome signs or Chromosome 14 trisomy syndrome symptoms. Furthermore, signs and symptoms of Chromosome 14 trisomy syndrome may vary on an individual basis for each patient. Only your doctor can provide adequate diagnosis of any signs or symptoms and whether they are indeed Chromosome 14 trisomy syndrome symptoms.