What tests are done to diagnose Williams syndrome?

What tests are done to diagnose Williams syndrome?

Diagnosis and Tests The geneticist may also: Order an EKG or echocardiogram (ultrasound of the heart) to check the heart for irregularities. Check your child’s blood pressure and kidneys for abnormalities. Recommend genetic testing through a blood test if the findings are concerning for Williams syndrome.

Are there prenatal tests for Williams syndrome?

Prenatal testing is available for couples with a family history of Williams syndrome who wish to conceive.

How do you know if you have Williams syndrome?

The diagnosis of Williams syndrome may be confirmed by a thorough clinical evaluation that includes a detailed patient history and specialized blood tests that may detect elevated levels of calcium in the blood.

Can you detect Williams Syndrome with a karyotype?

A standard karyotype may be performed because a negative FISH result for Williams syndrome does not exclude the possibility of an underlying chromosomal abnormality, and chromosomal translocation in the region affected by Williams syndrome has been reported.

Can you have mild Williams syndrome?

Learning problems are common in children with Williams syndrome. They range from mild to severe. Children are slower to walk, talk, and gain new skills compared to other children their age. They may have a learning disorder such as attention-deficit hyperactivity disorder (ADHD).

Is Williams syndrome more common in ethnicity?

Williams syndrome is caused by a missing segment (a ‘deletion’) of genetic material on chromosome 7. These deletions occur randomly. About one in every 20,000 babies is born with Williams syndrome. Males and females are equally affected, and the condition is found across all races and countries.

Is Williams syndrome trisomy or monosomy?

Williams syndrome is considered an autosomal dominant condition because one copy of the altered chromosome 7 in each cell is sufficient to cause the disorder. In a small percentage of cases, people with Williams syndrome inherit the chromosomal deletion from a parent with the condition .