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Mrs. V, a healthy 45-year-old woman, gives birth to a child. There are no outward complications associated with the birth but, when examined by the pediatrician, the child exhibits abnormal facies, a single palmar crease, hypotonic muscles, and loose pelvic joints. Following chromosomal analysis, a diagnosis of Down syndrome is made.

Discuss the cause of Down syndrome. (See Chromosomal Disorders—Trisomy 21.)
What risks factors exist in the family history? Why are these thought to be risk factors? (See Down Syndrome.)
Discuss further characteristics that the child may show as he gets older.

Sagot :

Answer:

Down syndrome, also known as trisomy 21, is caused by the presence of an extra copy of chromosome 21. Normally, each cell in the human body contains 23 pairs of chromosomes, for a total of 46 chromosomes. However, in individuals with Down syndrome, there is an additional copy of chromosome 21, resulting in a total of 47 chromosomes.

Maternal Age (Mrs. V, 45-year-old woman): Advanced maternal age is a significant risk factor for Down syndrome. While the majority of babies with Down syndrome are born to younger mothers due to their higher birth rates, the likelihood of having a child with Down syndrome increases with maternal age, particularly over the age of 35. This is because the chances of nondisjunction occurring during cell division in the egg increase as a woman gets older.

As the child with Down syndrome grows older, they may exhibit a range of physical and developmental characteristics, including:

1. Intellectual Disability

2. Physical Features such as abnormal facies, single palmar crease, hypotonic muscles, and loose pelvic joints, individuals with Down syndrome may have characteristic facial features such as a flattened face, upward slanting eyes, and a small nose.

3. May face social and emotional challenges, including difficulties with communication, social interactions, and adapting to new situations.

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