Sunday, November 13, 2011

47, XX+21 . . . huh

Ever seen a child and was not quite sure why he or she looked the way they did ? Or was not sure of the disorder the child carried. The excessive space between the first & second toe. The single deep crease across the palm. The abnormally shaped ears. The small mouth with enlarged tongue. The small nose with depressed nasal bridge. Or even the slanted eyes? Well these are the physical characteristics of Down Syndrome also known as "Trisomy 21". This disorder is a chromosomal condition that is associated with intellectual disability. People with Down Syndrome may be born with a variety of birth defects. About half of all affected children have a heart defect. Some even have digestive abnormalities, such as a blockage of the intestine which are less common. Other conditions such as recurrent ear infections that may lead to hearing loss, obstructive sleep apnea, thyroid dysfunctions, and obesity. Down syndrome occurs in about 1 in 740 newborns. Although women of all ages can have a child with Down Syndrome , the chance of having  a child with this condition increases as a women gets older. Down syndrome in a fetus can be identified through chorionic villus sampling or amniocentesis during pregnancy, or in a baby at birth. Men with Down Syndrome are essentially sterile and cannot reproduce. But women with Down Syndrome are able to produce egg cells and have babies which is a 50/50 chance of passing it down.

1 comment:

  1. Excellent post. Lots of information (good information). That statistic of 1 in 740, what resource did you get that from? That is interesting as the numbers I see change from time to time.

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