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Williams Syndrome Learning Center
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Blood vessel narrowing including supravalvular aortic stenosis, pulmonary stenosis, and pulmonary artery stenosis; Farsightedness; High blood calcium level (hypercalcemia) that may cause seizures and rigid muscles; High blood pressure; Slack joint...
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The diagnosis of Williams syndrome is usually made by a physician familiar with Williams syndrome and based upon a physical examination of the individual and a review of his or her medical history. It is often made in infants after a heart problem...
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Because of the variability in the way that Williams syndrome affects different people, it often goes undiagnosed for many years. Although there is a chromosome deletion in over 98% of children born with Williams syndrome, the deletions are so smal...
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The diagnosis of Williams syndrome is usually made by a physician familiar with Williams syndrome and based upon a physical examination of the individual and a review of his or her medical history. It is often made in infants after a heart problem...
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Fluorescent in situ hybridization (FISH) is a powerful technique used to identify the presence of specific chromosomes or parts of chromosomes through the attachment (hybridization) of fluorescent DNA probes to available chromosomal DNA. The fluor...
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During a physical examination, a health care provider studies a patient's body to determine the presence or absence of physical problems. A typical physical examination includes: Inspection (looking at the body; Palpation (feeling the body with ha...
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The health status of populations and of individuals is assessed for many reasons. Assessing needs for care helps guide the allocation of resources— diagnostic assessments guide treatment, prognostic assessments contribute to planning, and assessin...
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Amniocentesis is a test during pregnancy that removes a small amount of fluid from the sac around the baby to look for birth defects and chromosome problems.
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Amniocentesis is a procedure used to diagnose fetal defects in the early second trimester of pregnancy . A sample of the amniotic fluid, which surrounds a fetus in the womb, is collected through a pregnant woman's abdomen using a needle and syring...
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Amniocentesis is an optional procedure offered to women during pregnancy in order to obtain more information about a developing fetus. A doctor uses a thin, hollow needle to remove a small sample of amniotic fluid from around the developing baby. ...
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Amniocentesis is an optional procedure offered to women during pregnancy in order to obtain more information about a developing fetus. A doctor uses a thin, hollow needle to remove a small sample of amniotic fluid from around the developing baby. ...
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Amniocentesis is a procedure used to diagnose fetal defects in the early second trimester of pregnancy. A sample of the amniotic fluid, which surrounds a fetus in the womb, is collected through a pregnant woman's abdomen using a needle and syringe...
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Amniocentesis is an optional but reliable procedure offered to pregnant women in order to obtain more information about a developing fetus in the second trimester of pregnancy . It is primarily offered to pregnant women who are at increased risk, ...
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Amniocentesis is a procedure used to diagnose fetal defects in the early second trimester of pregnancy. A sample of the amniotic fluid, which surrounds a fetus in the womb, is collected through a pregnant woman's abdomen using a needle and syringe...
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A medical test that involves withdrawing a sample of fluid from the amniotic sac surrounding the fetus in the abdomen of the pregnant woman. Amniocentesis is a procedure used to detect the presence of genetic disorders such as Down syndrome and sp...
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Chorionic villus sampling (CVS) is the removal of a small piece of placenta tissue (chorionic villi) from the uterus during early pregnancy to screen the baby for genetic defects.
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Chorionic villus sampling (CVS) is a prenatal procedure for the removal by needle of chorionic villi and culture and examination of the fetal cells obtained. The cells are used in tests for genetic and chromosomal abnormalities of a fetus as early...
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Chorionic villus sampling (CVS), also known as chorionic villus biopsy, is a prenatal test that can detect genetic and chromosomal abnormalities of an unborn baby.
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An echocardiogram is a test that uses sound waves to create a moving picture of the heart. The picture is much more detailed than a plain x-ray image and involves no radiation exposure.
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Echocardiography is a diagnostic test that uses ultrasound waves to create an image of the heart muscle. Ultrasound waves that rebound or echo off the heart can show the size, shape, and movement of the heart's valves and chambers as well as the f...
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Echocardiography is a diagnostic test that uses ultrasound waves to produce an image of the heart muscle and the heart's valves.
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