A boy with Down's syndrome having recombinant chromosome 21 but no SOD-1 excess

2008 ◽  
Vol 32 (6) ◽  
pp. 383-387 ◽  
Author(s):  
Kiyoshi Miyazaki ◽  
Tsutomu Yamanaka ◽  
Nobuaki Ogasawara
Keyword(s):  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Chromosome 21 ◽  
Recombinant Chromosome

Down's syndrome and the molecular biology of chromosome 21

1988 ◽  
Vol 30 (6) ◽  
pp. 507-530 ◽  
Author(s):  
David N. Cooper ◽  
Christine Hall
Keyword(s):  
Molecular Biology ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Chromosome 21

To Find out the Value of Hypermobility in Down’s Syndrome

2021 ◽  
pp. 1-4
Author(s):  
Vadivelan Kanniappan ◽  
Keyword(s):  
Chromosomal Abnormalities ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Joint Hypermobility ◽  
Chromosome 21 ◽  
Knee Joints ◽  
Trunk Flexion ◽  
Total Point ◽  
Study Setting

Background: Down syndrome, the result of trisomy of chromosome 21, is one of the most common chromosomal abnormalities. Patients have a characteristic 8 facial appearance, variable levels of intelligence and self-care skills, and a variety of associated medical conditions. Orthopaedic manifestations occur frequently; most are related to hypotonia, joint hypermobility, and ligamentous laxity. Objective: Aim of the study is to find out the value of hyper mobility in down’s syndrome. Methodology: 30 Subjects including in my study ,study duration is 4 weeks, study setting is Maithree Special School, NIEPMD, REC Centre SRM Hospital. Outcome Measures: Beighton Scale, Goniometre Results: This beighton scale consists of goniometer measurement of thumb, metacarcophalangeal joints ,elbow joint , knee joints,trunk flexion .total point (9) point.50%of sample was scored 9 point.10%of sample was scored 8 point.7%of sample was s cored 7 points.35%of sample was scored 6 points. Conclusion: This study concluded that Down’s Syndrome children has hypermobility which needs to be investigated early and treated for better quality of life.

scholarly journals Down’s syndrome

2019 ◽  
Vol 13 (1) ◽  
pp. 47-52
Author(s):  
Sarah MacLennan
Keyword(s):  
Clinical Features ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Legal Issues ◽  
Chromosome 21 ◽  
Intellectual Impairment ◽  
Nasal Bridge ◽  
Chromosomal Disorders ◽  
Flat Nasal Bridge ◽  
Increased Risk

Down’s syndrome is caused by trisomy of chromosome 21; it is one of the best known chromosomal disorders in humans. It has effects on most body systems, giving rise to a variety of characteristic clinical features including intellectual impairment, short stature, flat face, flat nasal bridge, prominent epicanthic folds, up slanting palpebral fissures and protruding tongue. Down’s syndrome is also associated with an increased risk of other medical conditions. All patients with Down’s syndrome have a degree of intellectual impairment ranging from mild to severe. This article considers the epidemiology, genetics, associated risks, antenatal screening and potential ethico-legal issues relating to the disorder before discussing clinical features, complications and monitoring requirements. Finally, Down’s syndrome management, prognosis, and future diagnostic tests are outlined.

STEROID MEDIATED CHANGES OF LEUCOCYTE ALKALINE PHOSPHATASE ACTIVITY IN DOWN'S SYNDROME

PEDIATRICS ◽  
1966 ◽  
Vol 38 (6) ◽  
pp. 996-1002
Author(s):  
Ernest E. McCoy ◽  
Manuchair Ebadi ◽  
Jack England
Keyword(s):  
Alkaline Phosphatase ◽  
Phosphatase Activity ◽  
X Chromosome ◽  
Alkaline Phosphatase Activity ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Chromosome 21 ◽  
G6pdh Activity ◽  
Glucose 6 Phosphate Dehydrogenase ◽  
Leucocyte Alkaline Phosphatase

A study of the increase of leucocyte alkaline phosphatase (LAP) activity following oral anhydroxyprogesterone or intramuscular prednisolone was carried out in a group of Down's syndrome subjects and paired controls. The increase in LAP activity was greater in the Down's syndrome patients at p < .025 with anhydroxyprogestrone and at p < .005 with prednisolone. Simultaneous assays were carried out in another group of patients for LAP and the X chromosome-linked enzyme glucose 6-phosphate dehydrogenase (G6PDH). The increase in LAP activity was greater in Down's syndrome but the increase in G6PDH activity was similar in the two groups. Several possible reasons for the greater increase in LAP activity following the steroids were discussed. The authors favor the view that the increase is related to greater rates of synthesis of the enzyme in Down's syndrome and to trisomy for chromosome 21.

scholarly journals Alterations in the relative amounts of specific mRNA species in the developing human brain in Down's syndrome

1984 ◽  
Vol 220 (1) ◽  
pp. 179-187 ◽  
Author(s):  
S A Whatley ◽  
C Hall ◽  
A N Davison ◽  
L Lim
Keyword(s):  
Human Brain ◽  
Peptide Mapping ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Chromosome 21 ◽  
Translation Product ◽  
Two Dimensional ◽  
Turnover Rates ◽  
High Turnover ◽  
Mrna Species

Total cellular polyadenylated RNA [poly(A)+ RNA] was prepared after guanidinium thiocyanate extraction of frozen brain tissue from age-matched normal and Down's-syndrome (trisomy 21) human foetuses. Poly(A)+ RNA populations were analysed by translation in vitro, followed by two-dimensional gel analysis by using both isoelectric focusing (ISODALT system) and non-equilibrium pH-gradient electrophoresis (BASODALT system) as the first-dimension separation. The relative concentrations of poly(A)+ RNA species coding for seven translation products were significantly altered in Down's syndrome, as determined by both visual comparisons of translation-product fluorograms from normal and Down's-syndrome samples and by quantitative radioactivity determination of individual translation products. The relative concentrations of mRNA species coding for two proteins (68 kDa and 49 kDa) were increased in Down's syndrome and may represent genes located on chromosome 21. The relative concentrations of mRNA species coding for five proteins (37 kDa, 35 kDa, 25.5 kDa, 24.5 kDa, 23 kDa) were decreased in Down's syndrome, these probably representing secondary effects of the trisomy. Six Down's-syndrome-linked translation products (49 kDa, 37 kDa, 33 kDa, 25.5 kDa, 24.5 kDa, 23 kDa) did not migrate with appreciable amounts of cellular proteins on two-dimensional gels and hence may represent either proteins of high turnover rates or those that are post-translationally modified in vivo. One translation product (68 kDa) comigrated with a major cellular protein species, which was identified as a 68 kDa microtubule-associated protein by limited peptide mapping. The significance of these changes is discussed in relation to the mechanisms whereby the Down's-syndrome phenotype is expressed in the human brain.

scholarly journals Altered gut microbiota correlates with cognitive impairment in Chinese children with Down’s syndrome

2021 ◽  
Author(s):  
Shimeng Ren ◽  
Xinjuan Wang ◽  
Jiong Qin ◽  
Qing Mu ◽  
Shuai Ye ◽  
...  
Keyword(s):  
Cognitive Impairment ◽  
Cognitive Function ◽  
Gut Microbiota ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Chromosome 21 ◽  
Chinese Patients ◽  
Rrna Gene ◽  
Microbiota Composition ◽  
Gut Microbiota Composition

AbstractDown's syndrome (DS), a common chromosomal disease caused by chromosome 21 trisomy, is the main cause of cognitive impairment in children worldwide. Emerging evidence suggests that the microbiota–gut–brain axis plays a potential role in cognitive impairment. However, data regarding gut microbiota alterations in DS patients remain scarce, especially data from children with DS. This case–control study was conducted to explore the gut microbiota composition in Chinese DS children. Additionally, the potential association between gut microbiota and cognitive function in DS was evaluated. Microbiota communities in the feces of 15 DS subjects and 15 matched controls were investigated using high-throughput Illumina Miseq sequencing targeting the V3–V4 region of 16S rRNA gene. The relationships between gut microbiota composition and DS cognitive function scores were analyzed. The structure and richness of the gut microbiota differed between DS patients and healthy controls. The abundance of Acidaminococcaceae was decreased in DS patients. Moreover, the Kyoto Encyclopedia of Genes and Genomes analysis showed increased modules related to peptidases and pyrimidine metabolism. Overall, we confirmed that gut microbiota alterations occurred in Chinese patients with DS. Additionally, the fecal microbiota was closely related to DS cognitive impairment. Larger cohorts are needed to confirm these findings and to clarify the mechanisms involved. Elucidating these novel findings in the field of microbiota-gut-brain axis will provide a promising strategy for future studies of DS cognitive impairment.

A case of Down's syndrome resulting from mirror duplication of chromosome 21

1982 ◽  
Vol 138 (1) ◽  
pp. 80-81 ◽  
Author(s):  
Claude Stoll ◽  
A. Pennerath ◽  
Ch. Lausecker
Keyword(s):  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Chromosome 21

scholarly journals Overexpression of liver-type phosphofructokinase (PFKL) in transgenic-PFKL mice: implication for gene dosage in trisomy 21

1994 ◽  
Vol 299 (2) ◽  
pp. 409-415 ◽  
Author(s):  
A Elson ◽  
D Levanon ◽  
Y Weiss ◽  
Y Groner
Keyword(s):  
Trisomy 21 ◽  
Specific Activity ◽  
Gene Dosage ◽  
Down's Syndrome ◽  
Phenotypic Expression ◽  
Down’S Syndrome ◽  
Glycolytic Enzyme ◽  
Adult Brain ◽  
Chromosome 21 ◽  
Additional Layer

The human liver-type subunit of the key glycolytic enzyme, phosphofructokinase (PFKL), is encoded by a gene residing on chromosome 21. This chromosome, when triplicated, causes the phenotypic expression of Down's syndrome (trisomy 21). Increased phosphofructokinase activity, a result of gene dosage, is commonly found in erythrocytes and fibroblasts from Down's syndrome patients. We describe the construction of transgenic mice overexpressing PFKL for use as a well-defined model system, in which the effects of PFKL overexpression in various tissues, and throughout development, can be studied. Mice transgenic for a murine PFKL ‘gene cDNA’ hybrid construct were found to overexpress PFKL in a tissue-specific manner resembling that of the endogenous enzyme. Although unchanged in adult brain, PFK specific activity was found to have been almost doubled in brains of embryonic transgenic-PFKL mice, suggesting that the extra copies of the PFKL gene are expressed during the developmental period. This pattern of overexpression of PFKL in brains of transgenic-PFKL mice suggests that gene-dosage effects may be temporally separated from some of their consequences, adding an additional layer of complexity to the analysis of gene dosage in trisomy 21.

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