Down syndrome: something went wrong with my chromosomes
Down syndrome is the most frequent genetic cause for mild to moderate mental retardation and related medical problems. It is caused by a chromosomal abnormality. For an unknown reason, a change in cell growth results in 47 instead of the usual 46 chromosomes. This extra chromosome changes the orderly development of the body and brain. A newborn baby with Down syndrome often has physical features the doctor will most likely see in the delivery room. These may include a flat facial profile, an upward slant to the eye, a short neck, abnormally shaped ears, white spots on the iris of the eye (called Brushfield spots), and a single, deep transverse crease on the palm of the hand. But, a child with Down syndrome may not have all of these features; some of these features can even be found in the general population. To confirm the diagnosis, the doctor will request a certain blood test shortly after birth.Down syndrome occurs in about 1 out of 800 live births, in all races and income levels. A woman’s chances for having a baby with Down syndrome increases with her age, especially after the age of 35. There are several prenatal diagnostic tests that can be performed to find out if an unborn baby has Down syndrome. But, before undergoing any of these diagnostic tests, patients and their families should seek detailed genetic counseling to discuss their family history in relationship to the risks and benefits of having the tests. The doctor making the initial diagnosis of Down syndrome has no way of knowing the intellectual or physical capabilities of the child. Children and adults with Down syndrome have a wide range of abilities—they may be very healthy or they may have unusual and demanding medical and social problems at almost every stage of life. But, every person with Down syndrome is a unique person
