Down Syndrome Case Study

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Chapter 1
Chromosomal abnormalities which frequently cause physical and cognitive abnormalities for a child throughout life are usually evident at birth. Nondisjunction, deletion translocation, mosaicism, and isochrosome abnormalities are some of the various forms of chromosomal abnormalities (Hatfield, 2008).
Nondisjunction is the most common type of chromosomal abnormalities which occur through uneven chromosomal division. During cell division of the cells reproduction, the 46 chromosomes should be divided into half having 23 chromosomes in each new cell. With the new cell having an extra or lacking chromosome, nondisjunction abnormalities occur. Down syndrome, being the most common abnormality, occurs with the presence of extra chromosome 21. It occurs in about 700 to 800 births. Langdon Down first described it but still with an unknown case. Chromosomal anomaly was suggested as the cause in 1932 but the disorder was not demonstrated until 1959. It is observed nearly in all countries and races. Before, it was termed as “mongolism”, but the term is not applicable anymore. It is characterized by brachycephaly (shortness of head), retarded body growth, upward and outward slanted eyes (almond shaped) with
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There will be a grief over the loss of their perfect child which any couple dream of. They may be bothered with questions and worries in their minds on how to deal with this situation. They may ask themselves what disorder has afflicted their children, specially its nature and effects on the growth and development of the child. They may also wonder why it happened to their children among billions of children around the world. Questions would arise on what they could do about Down syndrome, the social and mental development of the child, and possibility of living with this child happily and in the most normal way they

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