Presentation
Thus the affected individuals may range from completely normal to presenting the full expression of Down syndrome. [mosaicism.bcchr.ca]
[…] mitotic chromosomal malsegregation events resulting in mosaicism, the observation of mosaicism in the parents of children with the non-mosaic form of Down syndrome, and the variation in phenotypic outcome for both constitutional and acquired traits present [ncbi.nlm.nih.gov]
In the parent, if all of the material is present, it is balanced and thus is usually harmless to the carrier. [rarediseases.org]
At the present time, there is not much research on the similarities and differences between simple trisomy 21 and mosaic trisomy 21. [imdsa.org]
The phenotype of persons having mosaicism for trisomy 21/Down syndrome reflects the percentage of trisomic cells present in different tissues. Am J Med Genet A 149A:573-583 (2009). Poot M: Preface. Cytogenet Genome Res 135:171-173 (2011). [karger.com]
Jaw & Teeth
- High Arched Palate
There may be a high arched palate. The chin is set back (retrognathia) but in a few cases, in older individuals, the chin is prominent. There may be a large tongue (macroglossia). There may be flattening of the cheek area (midface hyperplasia). [rarediseases.org]
Musculoskeletal
- Dolichocephaly
The head may be unusually large (macrocephaly) and has been described as long from front to back (dolichocephaly). There may also be a broad forehead. [rarediseases.org]
Treatment
Standard Therapies Treatment The treatment of trisomy 5p is directed toward the specific symptoms exhibited by the individual. [rarediseases.org]
There’s no treatment for mosaic Down syndrome. Parents can detect the condition before birth and prepare for any associated birth defects and health complications. Life expectancies for people with Down syndrome are much higher than in the past. [healthline.com]
We further propose that the occurrence of such tissue-specific T21 mosaicism may have important ramifications for the understanding of the pathogenesis, prognosis and treatment of medical problems shared between people with DS and those in the general [karger.com]
Prognosis
We further propose that the occurrence of such tissue-specific T21 mosaicism may have important ramifications for the understanding of the pathogenesis, prognosis and treatment of medical problems shared between people with DS and those in the general [karger.com]
[…] mosaicism—risk factors. 3 10 To understand better the dynamics of abnormal fetal growth, it is important to determine whether there are identifiable subgroups, such as confined placental mosaicism, within idiopathic IUGR, and whether a specific long term prognosis [fn.bmj.com]
Epidemiology
SGA or IUGR neonates have comparatively high levels of perinatal morbidity and mortality. 6 7 Recent epidemiological studies suggest a link between reduced fetal growth and the subsequent development of diseases such as diabetes, coronary heart disease [fn.bmj.com]
Prevention
National Birth Defects Prevention Network. Updated national birth prevalence estimates for selected birth defects in the United States, 2004-2006. Birth Defects Res A Clin Mol Teratol. 2010;88:1008-16. [labtestsonline.it]
Treatment may also include measures to help prevent or aggressively treat respiratory infections. Other treatment is symptomatic and supportive. Early intervention is important to ensure that children with trisomy 5p reach their potential. [rarediseases.org]