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Genetic and Rare Diseases Information Center (GARD)

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Wolf-Hirschhorn syndrome


Other Names for this Disease
  • 4p syndrome
  • Chromosome 4p syndrome
  • Distal deletion 4p
  • Microcephaly, IUGR, Hypertelorism, Ptosis, iris coloboma, hooked nose, external ear dysplasia, psychomotor retardation
  • WHS
More Names
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Your Question

My sister has two children that have been diagnosed with Wolf-Hirschhorn Syndrome. How common is it for a person to have more than one child with the syndrome? I am interested in getting a genetic test to see if I am a carrier. Will the test be covered by my insurance?  How much do they generally cost?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

How common is it for a person to have more than one child with Wolf-Hirschhorn syndrome? 

In most cases of Wolf-Hirschhorn syndrome, there is only one affected individual in a family. Between 85 percent and 90 percent of all cases of Wolf-Hirschhorn syndrome are not inherited and occur in people with no history of the disorder in their family. In the remaining cases of this syndrome, an affected individual inherits an abnormal chromosome 4 from a parent. A genetic test called a chromosome analysis can determine if one of the parents carries a chromosomal rearrangement between chromosome 4 and another chromosome. This rearrangement is called a balanced translocation. No genetic material is gained or lost in a balanced translocation, so these chromosomal changes usually do not cause any health problems. However, translocations can become unbalanced as they are passed to the next generation. Some people with Wolf-Hirschhorn syndrome inherit an unbalanced translocation that deletes genes near one end of chromosome 4. A loss of these genes results in the intellectual disability, slow growth, and other health problems characteristic of Wolf-Hirschhorn syndrome.[1]

If a parent is found to have a balanced translocation involving chromosome 4, they may be at risk of having additional children with Wolf-Hirschhorn syndrome. Once a translocation is found, other family members can also be tested to see if they are carriers of the same balanced translocation.
Last updated: 5/5/2009

Is chromosome analysis covered by insurance? How much does it cost?

The cost of chromosome analysis varies depending on which laboratory conducts the testing. It may or may not be covered by insurance. If you are interested in genetic testing, we recommend that you consult with a genetics professional.
Last updated: 5/5/2009

How can I find a genetics professional in my area? 

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:

Last updated: 6/22/2012

References