Where is down syndrome located




















What is a chromosome disorder? What is a chromosome? What types of mutation are there? What is meiosis? What is genetic testing? How helpful was this page? What's the main reason for your rating? Which of these best describes your occupation? What is the first part of your school's postcode? How has the site influenced you or others?

Thankyou, we value your feedback! These programs and the availability of them vary depending on where you live, but they generally provide children and families with professional help from physical therapists, occupational therapists, speech therapists, special educators, and social workers.

Participating in these programs has been shown to improve the outcomes for children. The most common and most serious concern involves the heart. About half of people with Down syndrome are born with a heart defect, though the severity can vary drastically. More than half of all children with Down syndrome also have vision problems and hearing loss.

Immune-system problems are common, boosting risk for infections, including pneumonia. Starting early in life, people with Down syndrome are also more likely to have hypothyroidism low thyroid function , gum disease and dental problems, digestion problems, and sleep difficulties including obstructive sleep apnea.

They also face a higher risk for anemia , leukemia , and epilepsy. Down syndrome affects about 1 in babies in the United States, resulting in about 6, newborns a year with the condition. In , there were , babies, children, teens, and adults with Down syndrome living in the United States. Sleep and thinking skills British researchers are looking at how sleep quality affects the ability of children with Down syndrome to pay attention and solve problems.

This could help researchers find new therapies. In addition to the Down syndrome—related complications outlined above, other health concerns may emerge as people with Down syndrome move into adulthood and old age.

Menopause may arrive earlier for women, often in the late forties. Vision impairment becomes more severe and eye problems like cataracts are more common. Hearing loss, an issue from birth for many with Down syndrome, may accelerate in young adulthood. Obesity, arthritis, osteoporosis , obstructive sleep apnea , and thyroid problems are also more likely in adults with Down syndrome. The extra copy of chromosome 21 can cause problems within the brain cells, and about half of people with Down syndrome will show signs of dementia , usually once they enter their fifties or sixties.

Down Syndrome Research Foundation This Canadian website offers news, research updates, well-written and beautifully photographed articles about people of all ages with Down syndrome, and more. MedlinePlus Genetics This U. Global Down Syndrome Foundation Established in , the nonprofit Global Down Syndrome Foundation is dedicated to significantly improving the lives of people with Down syndrome through research, medical care, education, and advocacy.

Editorial Sources and Fact-Checking. Occurrence of Down Syndrome in the United States. Centers for Disease Control and Prevention. June 27, Cleveland Clinic. May 30, Mayo Clinic. March 08, Mundakal GT, Lal P. What Is the Prognosis of Down Syndrome? May 18, January 31, Health and Medical Issues. Down Syndrome Education. DeGraf G, et al. Genetics in Medicine. April National Institutes of Health. Castilla, E. Associated anomalies in individuals with polydactyly.

Cox, D. Genes coding for sensitivity to interferon IfRec and soluble superoxide dismutase SOD-1 are linked in mouse and man and map to mouse chromosome Chromosomal assignment of mouse PRGS: further evidence for homology between mouse chromosome 16 and human chromosome Abstract Am.

Delabar, J. Molecular mapping of twenty-four features of Down syndrome on chromosome Down, J. Observations on an ethnic classification of idiots. London Hosp. Durmowicz, A. Pulmonary edema in 6 children with Down syndrome during travel to moderate altitudes. Pediatrics , Eggermann, T. Identification of a 21q22 duplication in a Silver-Russell syndrome patient further narrows down the Down syndrome critical region. Epstein, C. Down syndrome, trisomy In: Scriver, C.

New York: McGraw-Hill pub. Fong, C. Down's syndrome and leukemia: epidemiology, genetics, cytogenetics and mechanisms of leukemogenesis. Cancer Genet. Francke, U. Assignment of the gene for cytoplasmic superoxide dismutase SOD-1 to a region of chromosome 16 and of Hprt to a region of the X chromosome in the mouse.

Fuentes, J. A new human gene from the Down syndrome critical region encodes a proline-rich protein highly expressed in fetal brain and heart. Garrod, A. On the association of cardiac malformations with other congenital defects. Bartholemew Hosp.

London 53 only, Gimenez-Barcons, M. Autoimmune predisposition in Down syndrome may result from a partial central tolerance failure due to insufficient intrathymic expression of AIRE and peripheral antigens. Goate, A. Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer disease.

Grasso, M. Isochromosome, not translocation in trisomy 21q21q. Gwack, Y. Hall, B. Down's syndrome mongolism with normal chromosomes. Note: Originally Volume II. Henry, E. Hematological abnormalities during the first week of life among neonates with Down syndrome: data from a multihospital healthcare system. Hitzler, J. GATA1 mutations in transient leukemia and acute megakaryoblastic leukemia of Down syndrome. Blood , Hook, E. Chromosomal abnormality rates at amniocentesis and in live-born infants.

JAMA , Epidemiology of Down syndrome. In: Pueschel, S. Advances in Biomedicine and the Behavioral Sciences. Cambridge: Ware Press pub. Jiang, J. Translating dosage compensation to trisomy Korenberg, J. Down syndrome: molecular mapping of congenital heart disease and duodenal stenosis. Molecular definition of the region of chromosome 21 that causes features of the Down syndrome phenotype.

Down syndrome phenotypes: the consequences of chromosomal imbalance. Toward a molecular understanding of Down syndrome. Lejeune, J. Etude des chromosomes somatiques de neuf enfants mongoliens. Letourneau, A. Domains of genome-wide gene expression dysregulation in Down's syndrome. Note: Erratum: Nature only, Levitas, A. An angel with Down syndrome in a sixteenth century Flemish Nativity painting. Look, A. A leukemogenic twist for GATA1. Nature Genet. Lyle, R.

Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome Martin, K. Over-expression of RCAN1 causes Down syndrome-like hippocampal deficits that alter learning and memory. Martinez-Frias, M. The real earliest historical evidence of Down syndrome.

Letter Am. Maslen, C. CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome. Mazzoni, D. Abnormal pinna type and hearing loss correlations in Down's syndrome.

McCormick, M. Molecular genetic approach to the characterization of the Down syndrome region of chromosome Genomics 5: , Mikkelsen, M. Down's syndrome cytogenetic epidemiology. Hereditas , Miyabara, S. Trisomy 16 in the mouse fetus associated with generalized edema and cardiovascular and urinary tract anomalies. Teratology , Comparative study of phenotypic expression of mice trisomy 16 by different female strains: attempt at an animal model for human trisomy Cardiovascular malformations of mouse trisomy pathogenetic evaluation as an animal model for human trisomy In: Clarke, E.

Mount Kisco, N. Mundschau, G. Nakamura, A. A novel gene isolated from human placenta located in Down syndrome critical region on chromosome DNA Res. Isolation of a novel human gene from the Down syndrome critical region of chromosome 21q Neri, G. Down syndrome: comments and reflections on the 50th anniversary of Lejeune's discovery.

Niikawa, N. Possible mapping of the gene for transient myeloproliferative syndrome at 21q O'Doherty, A. An aneuploid mouse strain carrying human chromosome 21 with Down syndrome phenotypes.

Science , Ohira, M. Genomics , Olson, L. A chromosome 21 critical region does not cause specific Down syndrome phenotypes. Penrose, L. The relative effects of paternal and maternal age in mongolism.

Pereira, P. A new mouse model for the trisomy of the Abcg1-U2af1 region reveals the complexity of the combinatorial genetic code of Down syndrome.

Petersen, M. Down syndrome due to de novo Robertsonian translocation t14; DNA polymorphism analysis suggests that the origin of the extra 21q is maternal. Petit, F. A new mutation in the AFP gene responsible for a total absence of alpha feto-protein on second trimester maternal serum screening for Down syndrome. Polani, P. Chromosome 21 of man, 22 of the great apes and 16 of the mouse. Prandini, P.

Natural gene-expression variation in Down syndrome modulates the outcome of gene-dosage imbalance. Rahmani, Z. Critical role of D21S55 region on chromosome 21 in the pathogenesis of Down syndrome. Rex, A. A diagnostic index for Down syndrome. Reynolds, L. Tumour angiogenesis is reduced in the Tc1 mouse model of Down's syndrome.

Robinson, L. Down syndrome and leukemia. Leukemia 6: , Roper, R. Defective cerebellar response to mitogenic Hedgehog signaling in Down's syndrome mice. Note: Erratum: Proc. Salehi, A. Increased App expression in a mouse model of Down's syndrome disrupts NGF transport and causes cholinergic neuron degeneration. Saran, N. Global disruption of the cerebellar transcriptome in a Down syndrome mouse model.

Shaffer, L. Parental origin determination in 30 de novo Robertsonian translocations. Sherman, S. Non-disjunction of trisomy comparison of centromere maps resulting from maternal meiosis I and II non-disjunction.

Association between reduced recombination and nondisjunction. Shinohara, T. Mice containing a human chromosome 21 model behavioral impairment and cardiac anomalies of Down's syndrome. Sussan, T. Trisomy represses Apc Min -mediated tumours in mouse models of Down's syndrome. Taketani, T. Letter Leukemia , Tandon, R. Cardiac malformations associated with Down's syndrome.

Circulation , Thuline, H. Cytogenetics in Down syndrome. Tsui, N. Tyler, C. Increased risk of symptomatic gallbladder disease in adults with Down syndrome. Lower neonatal screening thyroxine concentrations in Down syndrome newborns.



0コメント

  • 1000 / 1000