! http://kidshealth.org/parent/system/medical/about_genetics.html#! ! ! Genetic Problems! Errors to the genetic code or "gene recipe" can happen in a variety of ways.

Sometimes information is missing from the code, other times codes have too much information, or have information that's in the wrong order.! ! These errors can be big (for example, if a recipe is missing many ingredients or all of them) or small (if just one ingredient is missing). But regardless of whether the error is big or small, the outcome can be signicant and cause a person to have a disability or at risk of a shortened life span.! ! Abnormal Numbers of Chromosomes! When a mistake occurs during cell division, it can cause an error in the number of chromosomes a person has. The developing embryo then grows from cells that have either too many chromosomes or not enough.! ! In trisomy, for example, there are three copies of one particular chromosome instead of the normal two (one from each parent). Trisomy 21 (Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome) are examples of this type of genetic problem.! ! Trisomy 18 a"ects 1 out of every 7,500 births. Children with this syndrome have a low birth weight and a small head, mouth, and jaw. Their hands typically form clenched sts with ngers that overlap. They also might have malformations involving the hips and feet, heart and kidney problems, and intellectual disability (also called mental retardation). Only about 5% of these children are expected to live longer than 1 year.! ! Trisomy 13 a"ects 1 out of every 15,000 to 25,000 births. Children with this condition often have cleft lip and palate, extra ngers or toes, foot abnormalities, and many di"erent structural abnormalities of the skull and face. This condition also can cause malformations of the ribs, heart, abdominal organs, and sex organs. Long-term survival is unlikely but possible.!

! In monosomy, another form of numerical error, one member of a chromosome pair is missing. So there are too few chromosomes rather than too many. A baby with a missing autosome has little chance of survival. However, a baby with a missing sex chromosome can survive in certain cases. For example, girls with Turner syndrome who are born with just one X chromosome can live normal, productive lives as long as they receive medical care for any health problems associated with their condition.! ! Deletions, Translocations, and Inversions! Sometimes it's not the number of chromosomes that's the problem, but that the chromosomes have something wrong with them, like an extra or missing part. When a part is missing, it's called a deletion (if it's visible under a microscope) and a microdeletion (if it's not visible). Microdeletions are so small that they may involve only a few genes on a chromosome.! ! Some genetic disorders caused by deletions and microdeletions include Wolf-Hirschhorn syndrome (a"ects chromosome 4), Cri-du-chat syndrome (chromosome 5), DiGeorge syndrome (chromosome 22), and Williams syndrome (chromosome 7).! ! In translocations (which a"ect about 1 in every 400 newborns), bits of chromosomes shift from one chromosome to another. Most translocations are "balanced," which means there is no gain or loss of genetic material. But some are "unbalanced," which means there may be too much genetic material in some places and not enough in others. With inversions (which a"ect about 1 in every 100 newborns), small parts of the DNA code seem to be snipped out, ipped over, and reinserted. Translocations may be either inherited from a parent or happen spontaneously in a child's own chromosomes.! ! Both balanced translocations and inversions typically cause no malformations or developmental problems in the kids who have them. However, those with either translocations or inversions who wish to become parents may have an increased risk of miscarriage or chromosome abnormalities in their own children. Unbalanced

translocations or inversions are associated with developmental and/or physical abnormalities.