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Genetic abnormality, Down syndrome - Coggle Diagram
Genetic abnormality
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Pathophysiology
Molecular assessments suggest that the 21q22.1q22.3 region, recognized as a Down syndrome essential site, contains one or more genes responsible for the congenital heart disease observed in Down syndrome.
Abnormal physiological functions affect thyroid metabolism and intestinal malabsorption. Patients with triploid 21 have an increased risk of obesity.
The hypothesis of a gene effect was that the gene on chromosome 21 was overexpressed in cells and tissues of people with Down's syndrome and that this was a phenotypic aberrant.
Frequent infections may be due to an impaired immune response, and the incidence of autoimmune diseases such as hypothyroidism and rare Hashimoto's thyroiditis is increasing
Nursing care plan
The toddler is capable to operate the age-specific motor, social, or expressive competencies within the present-day range of abilities.
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The baby will be in a position to shortly heal the wound; no pus or erythema, and no longer be sick
Down syndrome
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Causes
Trisomy 21. the child has three copies of chromosome 21. This is caused by abnormal cell division during the development of the sperm cell or the egg cell.
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Translocation Down syndrome - chromosome 21 becomes attached to another chromosome, before or at conception.