Congenital and Genetic Case Study Mrs. V, a healthy 45-year-old woman, gives birth to a child....

Congenital and Genetic Case Study 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.

Case Study Questions

Examine the pathophysiology identified in this scenario.
Distinguish risks factors that may exist in the family history.
Analyze further characteristics that the child may show as he gets older.

Expert Solution

Down syndrome is caused by trisomy 21 — the person has three copies of chromosome 21, instead of the usual two copies, in all cells. This is caused by abnormal cell division during the development of the sperm cell or the egg cell.

Risk factors

Advancing maternal age. A woman's chancesof giving birth to a child with Down syndromeincrease with age because older eggs have a greater risk of improper chromosome division

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

Heart defects. About half the children with Down syndrome are born with some type of congenital heart defect. These heart problems can be life-threatening and may require surgery in early infancy.
Gastrointestinal (GI) defects. GI abnormalities occur in some children with Down syndrome and may include abnormalities of the intestines, esophagus, trachea and anus. The risk of developing digestive problems, such as GI blockage, heartburn (gastroesophageal reflux) or celiac disease, may be increased.
Immune disorders. Because of abnormalities in their immune systems, people with Down syndrome are at increased risk of developing autoimmune disorders, some forms of cancer, and infectious diseases, such as pneumonia.
Sleep apnea. Because of soft tissue and skeletal changes that lead to the obstruction of their airways, children and adults with Down syndrome are at greater risk of obstructive sleep apnea.
Obesity. People with Down syndrome have a greater tendency to be obese compared with the general population.
Spinal problems. Some people with Down syndrome may have a misalignment of the top two vertebrae in the neck (atlantoaxial instability). This condition puts them at risk of serious injury to the spinal cord from overextension of the neck.
Leukemia. Young children with Down syndrome have an increased risk of leukemia.
Dementia. People with Down syndrome have a greatly increased risk of dementia — signs and symptoms may begin around age 50. Having Down syndrome also increases the risk of developing Alzheimer's disease.
Other problems. Down syndrome may also be associated with other health conditions, including endocrine problems, dental problems, seizures, ear infections, and hearing and vision problems.

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Congenital and Genetic Case Study Mrs. V, a healthy 45-year-old woman, gives birth to a child....

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