An infant with Down syndrome, illustrating typical features of this disorder: upslanting palpebral fissures, redundant skin of the inner eyelid (epicanthic fold), protruding tongue, and low nasal bridge. |
A 7-year-old girl with Down syndrome, illustrating upslanting palpebral fissures, redundant skin of the inner eyelid (epicanthic fold), and low nasal bridge. |
This is an example of trisomy 21 (47, XY, +21) also known as Down syndrome. Additions or deletions of genetic material are generally lethal in utero, but Trisomy 21 is an example of one form of addition in which the fetus may occasionally survive to term and beyond. The overall incidence is 1 in 1000 livebirths, but the non-dysjunctional event in meiosis that produces this anomaly increases in incidence with increasing maternal age, particularly over age 40. |
This baby demonstrates the typical features of Down syndrome with downslanting palpebral fissures and a slightly protruding tongue. |
The prominent epicanthal fold of a child with Down syndrome is shown here. The pupil also demonstrate a light smudgy opacity called a Brushfield spot. |
A simian crease is seen on the hand of this child with Down syndrome. A single crease extends transversely across the palm. |
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