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21 Down Syndrome Trisomy - Crossref

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Last Updated: 09 November 2022

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COVID-19 in Children with Down Syndrome: Data from the Trisomy 21 Research Society Survey

Adults with Down syndrome are at a higher risk of severe coronavirus disease 2019 than the general population, but research is needed to inform COVID-19 shielding and vaccination decisions. We were trying to establish the underlying epidemiological and clinical characteristics of COVID-19 in children with DS. Patients with DS19, 18 years of age, had a higher risk of respiratory disease, fever, and several medical disorders from COVID-19 than control patients without DS 18 years. Children with DS are at a higher risk of more severe COVID-19 presentations. Effective and early detection of COVID-19 in this population should be established, as well as the identification of children with DS who exhibit comorbidities that pose a danger to a severe course of COVID-19.

Source link: https://doi.org/10.3390/jcm10215125


Polymorphisms of the MTHFR Gene in Mothers of Children with Trisomy 21 (Down Syndrome) in a Polish Population

Abstract Background: Down syndrome is the most common cause of intellectual disability. In this paper, we examined the prevalence of five single-nucleotide polymorphisms of the MTHFR gene in a population of Polish mothers with trisomy 21 in comparison to a control group of women with healthy offspring. Methods: The test results consisted of venous blood from mothers who had given birth to a child with Down syndrome as well as women who had given birth to children without trisomy 21. Conclusions: There was no correlation between the prevalence of specific genotypes of the MTHFR gene in the examined Polish population, i. e. The results contradict study on polymorphisms of the MTHFR gene as potential risk factors for the occurrence of trisomy 21 in children.

Source link: https://doi.org/10.21203/rs.2.14849/v1


On the origin of the maternal age effect in trisomy 21 Down syndrome: the Oocyte Mosaicism Selection model

The maternal age effect of Down syndrome is attributed to the variability in pregnancy from foetal to ovulation in adulthood, according to this study. With respect to the common belief that the maternal age effect is complicated, dependent on many biological and environmental causes, we here illustrate the benefits of this Oocyte Mosaicism Selection model. We conclude that these family linkage results are also compatible with the maternal age effect that arises from the accumulation of trisomy 21 oocytes with increasing maternal age. One of the few simple ways to get to grips with what is really going on in this area would be to compare the prevalence of trisomy 21 oocytes in foetal ovaries with that in oocytes at the meiosis I stage from adult women.

Source link: https://doi.org/10.1530/rep-09-0088


Changing Paradigms in Down Syndrome: The First International Conference of the Trisomy 21 Research Society

Down syndrome is the most common medical cause of intellectual impairment in humans with a prevalence of u223c1:1,000 live births worldwide. People with DS present with a series of phenotypic shifts affecting most organs and organ systems. In all individuals with DS, ID is present, but with differing severity. DS is also the most common genetic cause of Alzheimer's disease, with a 52% incidence of AD-related dementia in DS. 230 scientists, advocates, physicians, and family members from June 2015 to the 1st International Conference of the Trisomy 21 Research Society in Paris.

Source link: https://doi.org/10.1159/000449049


Down’s Syndrome in Kuwait: Recurrent Familial Trisomy 21 in Sibs

Methods: Three young unrelated Kuwaiti families were discovered to have 3 sibs with regular trisomy 21 were investigated. The primary blood culture of Downu2019s syndrome children and their parents was determined by a detailed chromosome analysis. Results: In all the sibs' three families, there was a regular trisomy 21 was confirmed. However, gonadal tissue mosaicism could not be discounted, because it is not feasible to study the gonadal biopsy in the parents. Conclusion: Although parental mosaicism has been documented in familial recurrent trisomy 21 cases, no mosaicism has been established in our study, although it has been suggested.

Source link: https://doi.org/10.1159/000026086


First Trimester Down’s Syndrome Screening Shows High Detection Rate for Trisomy 21, but Poor Performance in Structural Abnormalities – Regional Outcome Results

Objective: To determine whether first trimester screening results are affected by other chromosomal abnormalities than trisomy 21 and structural anomalies, as well as whether it is possible to find these pregnancies using both ultrasound and biochemical screening methods. Women with first trimester biochemistry without ultrasound were tested using a combination of maternal serum free hCG, pregnancy-associated plasma protein A, and nuchal translucency. Conclusion: When used as part of routine medical therapy, first trimester Downu2019s syndrome screening is cost-effective in trisomy screening, but its success in structural abnormalities is poor. If a high detection rate is to be obtained also in structural defects, we conclude that it is too early to remove second trimester ultrasound studies completely from antenatal care services.

Source link: https://doi.org/10.1159/000095843


Trisomy 21 Mosaicism: We May All Have a Touch of Down Syndrome

In this context, we still don't have basic information on the effects of the CNV in normal cells from individual tissues, as well as that of whole chromosomes. Here, we'll demonstrate this difficulty by showcasing the earliest chromosome aberration found in the human genome, i. e. We also believe that the occurrence of such tissue-specific T21 mosaicism may have important ramifications for the recognition of the pathogenesis, prognosis, and management of medical conditions shared between people with DS and those in the general non-DS population.

Source link: https://doi.org/10.1159/000346028

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions

* Please keep in mind that all text is summarized by machine, we do not bear any responsibility, and you should always check original source before taking any actions