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Trisomy 21 Mosaicism

Mosaic Down Syndrome


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]
  • 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]
  • In the parent, if all of the material is present, it is balanced and thus is usually harmless to the carrier.[rarediseases.org]
Developmental Delay
  • *Possible long term complications of trisomy 21 in an otherwise 'normal' baby could include developmental delay, as well as possible increased risk for pediatric leukemia.[mosaicism.bcchr.ca]
  • Oexle, Konrad, et al. 3.7 Mb tandem microduplication in chromosome 5p13.1-p13.2 associated with developmental delay, macrocephaly, obesity, and lymphedema. Further characterization of the dup (5p13) syndrome.[rarediseases.org]
Multiple Congenital Anomalies
  • congenital anomalies (15 cases) intrauterine fetal demise (5 cases), IUGR (4 cases), isolated congenital heart disease (1 case) In another study, of 66 cases with prenatal diagnosis of mosaic trisomy 21 only 25 had outcome data. 17 showed features compatible[mosaicism.bcchr.ca]
Malnutrition
  • These can be divided into maternal—alcohol, smoking, illegal drugs, malnutrition, essential hypertension, diabetes—fetal—infection, chromosomal abnormalities, multifetal pregnancy, specific genetic disorders—and placental—abruption, abnormal implantation[fn.bmj.com]
Sleep Apnea
  • apnea, a health condition that causes you to temporarily stop breathing while you sleep ear infections immune disorders hearing loss heart defects visual impairments vitamin deficiencies These symptoms are also common in people with mosaic Down syndrome[healthline.com]
Heart Disease
  • disease (1 case) Abnormal abortus – 43 ( 34% abn cells) – Down syndrome facies (18cases), multiple congenital anomalies (15 cases) intrauterine fetal demise (5 cases), IUGR (4 cases), isolated congenital heart disease (1 case) In another study, of 66[mosaicism.bcchr.ca]
  • 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]
Visual Impairment
  • impairments vitamin deficiencies These symptoms are also common in people with mosaic Down syndrome.[healthline.com]

Treatment

  • 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]
  • Standard Therapies Treatment The treatment of trisomy 5p is directed toward the specific symptoms exhibited by the individual.[rarediseases.org]

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]
Sex distribution
Age distribution

Prevention

  • 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]

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