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47,XX,+21; 47,XY,+21; Trisomy 21 

 

A disorder caused by the presence of an extra chromosome 21 and characterized by mental retardation and distinguishing physical features.

Anencephaly is a defect in the closure of the neural tube during fetal development. The neural tube is a narrow channel that folds and closes between the 3rd and 4th weeks of pregnancy to form the brain and spinal cord of the embryo. Anencephaly occurs when the "cephalic" or head end of the neural tube fails to close, resulting in the absence of a major portion of the brain, skull, and scalp. Infants with this disorder are born without a forebrain (the front part of the brain) and a cerebrum (th...