Genetics of Down Syndrome
نویسندگان
چکیده
منابع مشابه
Turner Syndrome: A Unique Mosaic Case with 45,X/47,XX,+21/46,XX Cell Lines
We report an extremely rare case of Turner syndrome mosaicism in a 30-year-old woman. At least 100 metaphases were observed and analyzed through GTG banding with over 550 band resolutions observed. G-banded chromosome analysis revealed a mosaic female karyotype involving 3 different cell lines. One cell line (90% of the analyzed metaphases) presented monosomy X, while 6% of the cells showed tri...
متن کاملDown Syndrome: Current Status, Challenges and Future Perspectives
Down syndrome (DS) is a birth defect with huge medical and social costs, caused by trisomy of whole or part of chromosome 21. It is the most prevalent genetic disease worldwide and the common genetic cause of intellectual disabilities appearing in about 1 in 400-1500 newborns. Although the syndrome had been described thousands of years before, it was named after John Langdon Down who described ...
متن کاملSegmental Duplications as a Complement Strategy to Short Tandem Repeats in the Prenatal Diagnosis of Down Syndrome
Background: Quantitative fluorescence-polymerase chain reaction (QF-PCR) is an inexpensive and accurate method for the prenatal diagnosis of aneuploidies that applies short tandem repeats (STRs) as a chromosome-specific marker. Despite its apparent advantages, QF-PCR is not applicable in all cases due to the presence of uninformative STRs. This study was carried out to investigate the efficienc...
متن کاملStigma 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...
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