Question

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. Discussion Questions 1. Discuss the cause of Down syndrome. (See Chromosomal Disorders—Trisomy 21.)

2. What risks factors exist in the family history? Why are these thought to be risk factors? (See Down Syndrome.)

3. Discuss further characteristics that the child may show as he gets older.

Answer 1

1. Trisomy 21 is the most common type of down syndrome. Every cell has 46 chromosomes, 23 inherited from father and 23 from mother. When in some or all cells there is an extra copy of chromosome 21, it results.
2. According to national down syndrome society, the risk of conceiving a child with down sydrome increases with age. A woman of age less than 35 has the least chances of having a baby with down syndrome while a woman above 45 will be at highest risk. Health care providers always recommend to have a pre birth testing of the baby inorder to find if he is prone to down syndrome.
3. characteristics as he/she gets older are: short neck, protruding tongue, white spots on iris, low muscle tone, upward slanted eyes.