Cats And Dogs What Do You

1281 words - 5 pages

The extra chromosome 21 affects almost every organ system and results in a wide spectrum of phenotypic consequences. These include life-threatening complications, clinically significant alteration of life course (eg, mental retardation), and dysmorphic physical features. Down syndrome decreases prenatal viability and increases prenatal and postnatal morbidity. Affected children have delays in physical growth, maturation, bone development, and dental eruption.Two different hypotheses have been proposed to explain the mechanism of gene action in Down syndrome: developmental instability (ie, loss of chromosomal balance) and the so-called gene-dosage effect.According to the gene-dosage effect hypothesis, the genes located on chromosome 21 have been overexpressed in cells and tissues of Down syndrome patients, and this contributes to the phenotypic abnormalities.The extra copy of the proximal part of 21q22.3 appears to result in the typical physical phenotype, which includes the following:Mental retardation - Most patients with Down syndrome have some degree of cognitive impairment, ranging from mild (intelligence quotient [IQ] 50-75) to severe impairment (IQ 20-35); patients show both motor and language delays during childhoodBottom LineA karyotype will give you complete information about the structure and number of a persons chromosomes. It will diagnose Down syndrome due to trisomy 21, translocation Down syndrome, other trisomies and other structural chromosome defects. While it may take longer than FISH analysis, it offers a much more complete picture of someone's chromosomes.A karyotype is a picture of all the chromosomes from an individual's cells. A karyotype is a test used to check for chromosome abnormalities. A picture of a person's chromosomes is created by staining the chromosomes with a special dye, photographing them through a microscope and arranging them in pairs. A karyotype gives information about the number of chromosomes a person has, the structure of their chromosomes and the sex of the individual. Down syndrome is diagnosed by a karyotype test.AdsTAFE Courses Recognised Courses. Study Anytime, AnywherePronunciation: "Carry" "o" "type"Also Known As: chromosome test, chromosome analysisExamples: A karyotype showed that the baby had an extra number 21 chromosome and thus had 47 chromosomes instead of 46.Down syndrome is caused by an extra number 21 chromosome. But what does this really mean? To really understand what causes Down syndrome, you need to have a thorough understanding of what chromosomes are, and what they do.Packages of genetic informationThe easiest way to think of chromosomes is as packages of genetic information. The human body is made up of all different types of cells and inside each of these cells are our genes. Genes are the units of inheritance that are passed from one generation to another. They are located in every cell of our bodies and they provide the...

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