Down Syndrome
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چکیده
Description Down syndrome is the most common genetic cause of mental retardation, affecting one in 700 live births. The phenotype of Down syndrome is complex and variable in severity among individuals; including mental retardation and cognitive deficits, heart defects, hypotonia, motor dysfunction, immune system deficiencies, an increased risk of leukemia, and development of the pathology of Alzheimer's disease. Down syndrome is generally (95%) caused by the free copies of chromosome 21. In about 5% of the cases, it results from translocation of an additional copy to another chromosome, from tetrasomy of chromosome 21, or from duplicated regions within the chromosome.
منابع مشابه
Stigma in Iranian Down Syndrome
Objectives: Stigma is a negative value. Many behaviors are to ward Stigmatized people. Down syndrome is one of conditions with Stigma. The aim of this study is to determine the sources of labeling in iranian Down syndrome. Methods: The View of 105 Down syndrome families concerning stigma were conducted. All of Down syndrome was under 50 years. Results: A fair proportion of Down syndrome f...
متن کاملDetermination of the sensitivity and secificity of hypertrophy of hyponychium as a new diagnodtic sing in down syndrome
down syndrome is the most common known chromosomal disorder in man.this syndrome has many sings and symptoms which are variable in frequency.taking all the signs and symproms in to consideration,diagnosis of down syndrome is not a difficult task-however in the past it was difficult to diagnose this syndrome based on a single clinical sign,until hypertrophy of hyponichium was first introduced b...
متن کاملA Comparison of the Role of Family Functioning in Self-Worth and Happiness of Slow-Paced Individuals with Down Syndrome in Tehran and Baku
This study sought to compare the role of family functioning in self-worth and happiness of slow-paced individuals with Down syndrome in Tehran and Baku. The present research had a causal-comparative (ex post facto) design. The research population was comprised of adults with Down syndrome some of whom had the Alzheimer’s disease. Purposive sampling method was utilized and 40 adults with Down sy...
متن کاملRELATIONSHIP BETWEEN THE SERUM LEVELS OF FOLIC ACID WITH THE RESULTS OF FIRST TRIMESTER DOWN SYNDROME SCREENING METHODS AND FETAL KARYOTYPE IN HIGH RISK PREGNANT WOMEN REFERRING TO THE ALZAHRA EDUCATIONAL HOSPITAL OF TABRIZ
Background & Aims: To investigate associations between serum levels of folic acid with the results of the first trimester Down syndrome screening methods and fetal karyotype in high-risk pregnant women. Materials & Methods: In this cross-sectional study, serum levels of folic acid in 232 high risk pregnant women were measured using ELISA method and Down syndrome screening was done using karyot...
متن کاملCongenital Heart Disease in Children with Down syndrome in Kermanshah, West of Iran during 2002 - 2016
Background Down syndrome is the most common chromosomal anomaly. Dysmorphic features can occur in several organs in this syndrome. Cardiac anomalies with a prevalence of 50% are the most common anomalies responsible for death during the first two years of life. We aimed to determine the prevalence of cardiac anomalies among Down syndrome patients admitted to two tertiary hospitals in Kermanshah...
متن کاملReading in people with Down syndrome: "Visual route" or "phonological route"?
Background and Purpose: Many people with Down syndrome learn to read to some degree, but how they learn to read has been debated by researchers. Some researchers have argued that given the phonological deficits of people with Down syndrome and their stronger visual-spatial abilities, they rely on the "visual route" to learn to read, while others have shown that the "phonological route" is also ...
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تاریخ انتشار 2008