Down's Syndrome - Diagnosis



Diagnosis is often made at birth, when the characteristic physical signs of Down's syndrome are noted. Genetic tests can then confirm the diagnosis. These tests look for abnormal chromosomes. A blood or skin sample is taken from the child. The sample is then stained with a special chemical that makes the chromosomes visible. The pattern of chromosomes that shows up is known as a karyotype (pronounced KARR-ee-uh-tipe). The presence of an abnormal chromosome #21 stands out in the karyotype.

Two preschool children with Down's syndrome. (Photograph by Susan Woog Wagner. Reproduced by permission of Photo Researchers, Inc.)
Two preschool children with Down's syndrome. (Photograph by
Susan Woog Wagner
. Reproduced by permission of
Photo Researchers, Inc.
)

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