Down Syndrome: Clinical and Genetic Aspects, Genetic Counseling and Prenatal Screening and Diagnosis
作者： Erika Cristina , Joice Matos , Walter Pinto , Eny Maria Goloni Bertollo
DOI: 10.5772/52950
关键词: Down syndrome 、 Genetic counseling 、 Robertsonian translocation 、 Trisomy 、 Chromosome 21 、 Nondisjunction 、 Genetics 、 Chromosomal translocation 、 Biology 、 Chromosome
摘要: Down syndrome (DS) or trisomy 21 is the most common genetic disorder with a prevalence of 1 in 660 live births [1]. In 1959, Lejeune and colleagues discovered basis DS named as chromosome 21, which smallest human autosomal chromo‐ some [2]. Trisomy can occur three types chromosomal abnormalities: free translocation mosaicism. Free characterized by presence complete copies occurring about 90-95% cases [3-5]. More than 90% nondisjunction are maternal origin, mainly during meiosis I, 5% involve an additional paternal extra small propor‐ tion (2%) consequence post-zygotic mitotic non-disjunction [6]. Translocations at‐ tributed to 1-7% cases, Robertsonian involving chromosomes 14 being type. Mosaicism, cells containing 46 others 47 (with 1), reported
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