The only way to confirm the presence of an extra chromosome is by a karyotype (pronounced
care-EE-oh-type) test. A health care provider will take a small blood or skin sample and send it to a laboratory, where a technician inspects the cells under a microscope to find the extra chromosome. A karyotype test shows the same results at any time in a person's life.
Tests for chromosome disorders, including KS, may be done before birth. To obtain tissue or liquid for this test, a pregnant woman undergoes chorionic villus (pronounced
KAWR-ee-on-ik vil-uhs) sampling or amniocentesis (am-nee-oh-sen-TEE-sis).1 These types of prenatal testing carry a small risk for miscarriage and are not routinely conducted unless the woman has a family history of chromosomal disorders, has other medical problems, or is above 35 years of age.
Because symptoms can be mild, some males with KS are never diagnosed.2
Several factors affect whether and when a diagnosis occurs:
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