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Genetic and Rare Diseases Information Center (GARD)

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Bilateral perisylvian polymicrogyria


Other Names for this Disease

  • CBPS
  • Congenital bilateral perisylvian syndrome
  • Perisylvian syndrome
  • Perisylvian syndrome, congenital bilateral
  • PMGX
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

If a child is the only one affected with perisylvian syndrome in his family, can the inheritance of the syndrome be determined? Would perisylvian syndrome in a male child come from the mother or the father, or both? Is genetic testing for this syndrome available?

Our Answer

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

Is bilateral perisylvian polymicrogyria genetic?

Bilateral perisylvian polymicrogyria may be sporadic (non-genetic) or genetic. 

There have been reports of some families with multiple affected family members. The patterns of inheritance observed in these families varied and included X-linked, autosomal recessive, and autosomal dominant patterns of inheritance. This suggests that more than one gene, when mutated, may result in perisylvian syndrome, and that the mode of inheritance may depend on the gene mutation(s) involved. Currently no specific causative gene mutations have been identified.[1][2]
Last updated: 5/6/2011

If a child is the only one affected with bilateral perisylvian polymicrogyria in his family, can the inheritance pattern of the syndrome be determined? Would this condition in a male child come from the mother or the father, or both?

It can be a challenge to determine if a particular case of bilateral perisylvian polymicrogyria is sporadic (e.g., due to a exposure or problem during pregnancy), versus genetic, particularly if nothing in the family history or pregnancy history is indicative of a particular cause. Knowing the gender of the child with the condition in this case is insufficient information to determine the probable cause of the syndrome.

If a family member has been diagnosed with this condition and you would like to speak with a medical professional further regarding the chance that the condition would recur in your family, you may find it helpful to speak with a genetics professional. Genetics clinics are a source of information for individuals and families regarding genetic diagnosis, natural history, treatment, mode of inheritance, and genetic risks to other family members. To find a genetics clinic, we recommend that you contact your primary doctor for a referral. Click here to learn more about genetic consultations.

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

  * GeneTests - A searchable directory of US and international genetics and prenatal diagnosis clinics. Go to the following link and click on 'Clinic Directory' to find a genetic service close to you.
http://www.geneclinics.org/

  * ResourceLink - A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.
http://www.nsgc.org/resourcelink.asp

  * Genetic Centers, Clinics, and Departments - A comprehensive resource list for genetic counseling, including links to genetic centers and clinics, associations, and university genetics departments. Hosted by the University of Kansas Medical Center.
http://www.kumc.edu/gec/prof/genecntr.html

Last updated: 5/6/2011

Is genetic testing available for bilateral perisylvian polymicrogyria?

The specific genetic cause of bilateral perisylvian polymicrogyria is unknown. However, GeneTests lists the names of laboratories that currently perform clinical genetic testing for polymicrogyria in general. To see a list fo these laboratories, click here.

GeneTests also lists the names of laboratories that are offering research testing for this condition. Research genetic tests may be used to find disease-causing genes, learn how genes work, or aid in the understanding of a genetic disorder. To see a list of the laboratories doing research testing on this condition, click here.
Last updated: 5/6/2011

How can I learn more about bilateral perisylvian polymicrogyria?

You can find a list of resources on bilateral perisylvian polymicrogyria by visiting the Genetic and Rare Diseases Information Center resource page on this topic by clicking here.
Last updated: 5/6/2011

References
Other Names for this Disease
  • CBPS
  • Congenital bilateral perisylvian syndrome
  • Perisylvian syndrome
  • Perisylvian syndrome, congenital bilateral
  • PMGX
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.