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Down syndrome is a genetic disorder at chromosomal level. This condition it is associated with intellectual disability. People with Down syndrome may have variety of birth defects. Chromosomal abnormality is defined as missing the extra portion of chromosomal DNA.
The Journal of Down syndrome and Chromosome Abnormalities is an open access and peer reviewed scientific journal that deals with types of chromosome abnormalities, risk of Down syndrome, genetic challenges of Down syndrome, Effects of Down syndrome, Diagnosis of Down syndrome, Study of chromosome 21, diagnostic testing, screening and chromosomal abnormalities like Wolf-Hirschhorn syndrome, Jacobsen Syndrome, Angelman syndrome, Turner syndrome, 22q11.2 deletion syndrome, Triple X Syndrome, Williams Syndrome, Cri du Chat Syndrome, Trisomy 13/Patau syndrome, Trisomy 18/Edwards syndrome, Cat eye syndrome, Fragile X syndrome etc..
Journal of Down syndrome and chromosome abnormalities is a peer reviewed journal, serving the International Scientific Community offering an Open Access platform to the authors to publish their research outcome.
Journal of Down syndrome and chromosome abnormalities is one of the best open access journals that aims to publish the most complete and reliable source of information on discoveries and current developments in the mode of original articles, review articles, case reports, short communications, etc. in this field and provide online access without any restrictions or subscriptions to the researchers worldwide.
Fragile Syndrome is also called as Marine-bell Syndrome. This disease caused by changes in single X syndrome(mutation in the FMR I gene).it is the common form of inherited mental in retardation in males.it affects about 1 in 4000 males and 1 in 8000 females. Symptoms of This disease are categorized by large head size, long face, prominent chin, protruding ears, Intellectual disability. Currently there is no cure for this disease.
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Journal of Clinical & Medical Genomics, Cell & Developmental Biology, Journal of Genetic Syndromes & Gene Therapy, Cellular and Molecular Biology, Chromosome Research, Genes Chromosomes and Cancer, Genetics in Medicine, Human Genetics.
Down syndrome is a genetic disorder in which person have 47 chromosomes instead of the usual 46.Down syndrome occurs in extra copy of chromosome 21 it is called as trisomy 21.the extra chromosome causes the problems to body and brain. Symptoms of this disease are small ears, flatted nose, small mouth, poor muscle tone, short height etc. Identification of Down syndrome in pregnant by conducting the screening tests and diagnostic tests. Currently there is no specific treatment for dis disease.
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Cellular and Molecular Biology, Journal of Clinical & Medical Genomics, Journal of Genetic Syndromes & Gene Therapy, Journal of Tissue Science & Engineering, Chromosome Research, Genes Chromosomes and Cancer, Genetics in Medicine, Human Genetics.
Chromosomal abnormality is well-defined as missing the extra portion of chromosomal DNA. Chromosomal abnormalities are categorized two groups they are numerical abnormalities and structural abnormalities. The example of numerical abnormalities is Down syndrome. A chromosome abnormality occurs when there is an error in cell division. There are two types of cell division they are mitosis and meiosis. The examples of the chromosome disorders are wolf -hirschhorn syndrome, Jacobsen syndrome, Angelman syndrome, Turner syndrome, Triple X syndrome, Williams syndrome etc.
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Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue holds all the body’s cells, organs and tissue together. Connective tissue plays an important role in helping the body grow and mature properly. Connective tissue is made up of proteins. The protein that plays a role in Marfan syndrome is called fibrillin-1. Marfan syndrome is caused by a defect (or mutation) in the gene that tells the body how to make fibrillin-1.about 1 in 5000 people having Marfan syndrome. Symptoms of Marfan syndrome are flat feet, learning Disability, Hypotonia, small lower jaw, Heart murmurs etc.
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Patau syndrome is also called as Trisomy 13. Trisomy 13 is a genetic disorder in which a person has three copies of genetic material from chromosome 13, instead of the usual two copies. Patau syndrome is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. Symptoms of the Disease are Extra fingers, decreased muscle tone, clenched hands, small eyes, small head, scalp defects etc. Currently there is no specific treatment for Patau syndrome.
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Williams syndrome is a rare genomic disorder that affects a kid's growth, physical appearance, and cognitive development. Persons who have Williams syndrome are missing genetic material from chromosome 7, containing the gene elastin. This gene's protein product gives blood vessels the stretchiness and strength required to withstand a lifespan of use. The elastin protein is made only during embryonic development and childhood, when blood vessels are formed. Because they absence the elastin protein, people with Williams Syndrome have disorders of the circulatory system and heart. The symptoms of this disease are intellectual ability, heart defects, and small chin, full lips, learning disorders etc.
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Jacobsen syndrome is a condition caused by loss of genetic material from chromosome 11. It is also called as 11q terminal deletion disorder. Symptoms of dis disease are wide set eyes, small lower jaw, small lower jaw, broad nasal bridge etc. this disease occurs 1 in 100000 new-borns. Other Characteristics of Jacobsen syndrome can include heart defects, feeding difficulties in infancy, short stature, repeated ear and sinus infections, and skeletal abnormalities. Jacobsen syndrome can also affect the digestive system, kidneys, and genitalia. Currently there is no specific treatment for Jacobsen syndrome.
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Turner syndrome is a chromosomal condition that effects development in females. It is also called as Monosomy X. Turner syndrome is related to X chromosome; normally females have two X chromosomes. Turner syndrome results when one normal X chromosome is present in a female's cells and the other sex chromosome is missing or structurally altered. The symptoms of this disease are High blood pressure, kidney problems, skeletal abnormalities, short stature, Heart problems etc. there is no treatment for Turner syndrome.
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It is also called as 5p syndrome. Cri du chat syndrome is a rare genetic condition caused by the deletion of genetic material on the small arm of chromosome 5. This syndrome makes infants produce high pitched cry similar to cat. This disease categorized by intellectual disability, small head size, low birth weight, weak muscle tone in infancy. The symptoms of this disease are small head size, widely-space eyes, small chin, and Small nose, Respiratory problems etc. there is no treatment for Cri du chat syndrome, physiotherapy help to the increase muscle tone.
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Prader-Willi syndrome is a disorder caused by loss of genetic material from proximal arm of chromosome 15. An important characteristic of Prader-Willi syndrome is a continuous sense of hunger that usually begins at around 2 years of age. Persons with Prader-Willi syndrome want to eat constantly because they never feel full (hyperphagia) and usually have trouble controlling their weight. Many problems of Prader-Willi syndrome are due to obesity. The common features of this disease are mental retardation, short stature, small hands and small feet etc.
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