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Genetic: Down Syndrome

KNOWLEDGE AND PERCEPTION REGARDING PRENATAL GENETIC SCREENING OF THALASSEMIA, DOWN SYNDROME AND NEURAL TUBE DEFECTS: A STUDY AMONG IIUM KUANTAN UNDERGRADUATES

KNOWLEDGE AND PERCEPTION REGARDING PRENATAL GENETIC SCREENING OF THALASSEMIA, DOWN SYNDROME AND NEURAL TUBE DEFECTS: A STUDY AMONG IIUM KUANTAN UNDERGRADUATES

... Prenatal genetic screening is offered during pregnancy to detect foetuses that have certain ...prenatal genetic testing contributes to the increase in the birth defect ...prenatal genetic screening ...

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A Study On The Incidence Of Various Genetic Syndromes In Kozhikode District, Kerala, India With Special Reference To Down Syndrome

A Study On The Incidence Of Various Genetic Syndromes In Kozhikode District, Kerala, India With Special Reference To Down Syndrome

... five genetic syndromes is a very strong indicator of the district’s genetic disease ...of Down syndrome, the finding that in most of the cases, parental age is below 32 is ...

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Providing Services for Families With a Genetic Condition: A Contrast Between Cystic Fibrosis and Down Syndrome

Providing Services for Families With a Genetic Condition: A Contrast Between Cystic Fibrosis and Down Syndrome

... many genetic conditions at birth, before or during preg- nancy, or as a screen for risk of ...other genetic conditions are ascertained clinically at birth or soon after (such as Down ...

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Perceptions and discourses relating to genetic testing : interviews with people with Down syndrome

Perceptions and discourses relating to genetic testing : interviews with people with Down syndrome

... have Down syndrome, and Luke’s reaction was: ‘(nervous laugh) em, right… got me there… ...have Down syndrome, he believed that it was a bad thing that would cause a baby to die, and that this ...

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Genetic aspects of congenital heart disease in down syndrome

Genetic aspects of congenital heart disease in down syndrome

... for Down syndrome are now being identified in a 40 genes (Epstein, ...of Down syndrome are numerous and can most significant include intellectual impairment, short stature, heart disease, ...

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Clinical and genetic features of pediatric acute lymphoblastic leukemia in Down syndrome in the Nordic countries

Clinical and genetic features of pediatric acute lymphoblastic leukemia in Down syndrome in the Nordic countries

... acquired genetic differences, although single nucleotide polymorphism (SNP) analyses have in gen- eral identified similar microdeletions in DS-ALL and non-DS-ALL cases [16,22-25], DS-ALL and non-DS- ALL are to a ...

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Access to Genetic Counseling for Children With Autism, Down Syndrome, and Intellectual Disabilities

Access to Genetic Counseling for Children With Autism, Down Syndrome, and Intellectual Disabilities

... have genetic risks associ- ated with the development of those conditions; asthma, attention-deficit/ hyperactivity disorder, and diabetes are good examples, with each result- ing from a combination of ...

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A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome

A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome

... 31 possible that patterns of individual differences in adults with DS, with or without AD, are already rooted in individual differences in infants with DS, at the genetic, cellular, neural, cognitive, behavioural, ...

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Stigma in Iranian Down Syndrome

Stigma in Iranian Down Syndrome

... The term stigma refers to any persistent trait of an individual or group which evokes negative or punitive responses. Perception of negative difference (deviance) and their evocation of adverse social responses (stigma) ...

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The Association of Gender, Age, and Coping with Internalizing Symptoms in Youth with Sickle Cell Disease

The Association of Gender, Age, and Coping with Internalizing Symptoms in Youth with Sickle Cell Disease

... their genetic counselors or medical health ...with Down syndrome, and religious and personal beliefs about termination of ...with genetic counselors and other health professionals may help ...

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Should We Mend Their Broken Hearts? The History of Cardiac Repairs in Children With Down Syndrome

Should We Mend Their Broken Hearts? The History of Cardiac Repairs in Children With Down Syndrome

... Down syndrome were denied access to cardiac surgery by way of delayed re- ...with Down syndrome were referred after 1 year of age, with 5 being inoper- able due to pulmonary ...with ...

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Down-Klinefelter syndrome (48,XXY,+21) in a neonate associated with congenital heart disease.

Down-Klinefelter syndrome (48,XXY,+21) in a neonate associated with congenital heart disease.

... 2009). Down syndrome (DS) is a human chromosomal disease with high incidence and affects one out of every 770 live births (Iliopoulos et ...Klinefelter syndrome (KS), usually with the 47,XXY ...

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Polymorphisms of interleukin 6 in Down syndrome individuals: a case-control study.

Polymorphisms of interleukin 6 in Down syndrome individuals: a case-control study.

... three genetic polymorphisms in the IL6 gene (rs15800795, rs15800796, and rs15800797) in DS individuals and without the syndrome, aiming to identify differences between the groups that could be associated ...

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“Down syndrome: an insight of the disease”

“Down syndrome: an insight of the disease”

... The incidence of CHD in newborn babies with DS is up to 50% [32]. Endocardial cushion defect also called as atrioventricular cushion defect is most common form which affects up to 40% of the patients. Ventricular sep- ...

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Verification of foetal Down syndrome biomarker proteins in maternal plasma and applications in prenatal screening for Down syndrome

Verification of foetal Down syndrome biomarker proteins in maternal plasma and applications in prenatal screening for Down syndrome

... As one of the most common birth defect genetic dis- eases associated with chromosome aneuploidy, DS was first completely described in 1866 by Dr. John Langdon Down. It was confirmed that DS is caused by a ...

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Whether Paternal Age Effect Exists as a Risk Factor in Trisomy 21

Whether Paternal Age Effect Exists as a Risk Factor in Trisomy 21

... for genetic disorders & identification of potential risks associated with advanced parental age is now more relevant than ...in Down syndrome is well established but little is known about the ...

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Co-Design Process of a Smart Phone App to Help People With Down Syndrome Manage Their Nutritional Habits

Co-Design Process of a Smart Phone App to Help People With Down Syndrome Manage Their Nutritional Habits

... DS is a chromosomal condition that is caused by the presence of extra genetic material from chromosome 21, and people with DS tend to have mild, moderate, or severe intellectual difficulties. Only a small number ...

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Improving the working memory of students with down syndrome through a cognitive intervention program

Improving the working memory of students with down syndrome through a cognitive intervention program

... American Down Syndrome Society ...with Down syndrome, provided they work hard and have a ‘can do' ...accomplished Down syndrome figure is Sujeet ...with Down ...

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Anesthesia for Patients with Down syndrome

Anesthesia for Patients with Down syndrome

... Down syndrome is the commonest chromosomal abnormality and involves multiple systems of the ...with Down syndrome are posted for various cardiac and non-cardiac surgeries requiring general ...

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Median Nerve Conduction Velocity and Central Conduction Time Measured With Somatosensory Evoked Potentials in Thyroxine-Treated Infants With Down Syndrome

Median Nerve Conduction Velocity and Central Conduction Time Measured With Somatosensory Evoked Potentials in Thyroxine-Treated Infants With Down Syndrome

... METHODS. A single-center, nationwide, randomized, double-blind, clinical trial was performed. Neonates with Down syndrome were assigned randomly to thyroxine (N ⫽ 99) or placebo (N ⫽ 97) treatment for 2 ...

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