FAQs Archive - Page 2 of 2 - Koolen-de Vries Syndrome Foundation

30 Jan

Are there any known differences between the presentation of the microdeletion and the KANSL1 mutation at this time (2015)?

KdVS caused by a mutation in the KANSL1 gene is very rare. Based on relatively small numbers there doesn’t seem to be a difference between the presentation of the 17q21.31 […]

30 Jan

Does the size of the microdeletion or the number of genes deleted affect the severity of symptoms?

The size of most 17q21.31 deletions are almost identical and the severity of the symptoms is probably caused by other (genetic) factors. KdVS can be caused by the fact that […]

30 Jan

If a child is found to have the microdeletion or the mutation – what reasons might a parent have to also have genetic testing? Which tests should the parent have? Is there any reason a sibling should be tested?

Testing for the H2 17q21.31 inversion is not warranted in a clinical setting. We test the parents of a child with a typical 17q21.31 deletion, although the clinical relevance is […]

30 Jan

I hear people talk about the inversion. What does that mean? Does one of the parents of an individual with KDVS have to have the inversion? Is there a way to test for the inversion – or is that necessary? If you do have the inversion, does it mean you are more likely to have another KDVS child?

The 17q21.31 region is a complex region in the human DNA. For example, part of the 17q21.31 region can be inverted. This inversion is called the H2 lineage. An inversion […]

30 Jan

Please explain how the 17q21.31 microdeletion is found using genetic testing (FISH vs microarry)? Please explain what testing finds the mutation that causes Koolen-de Vries Syndrome?

Most 17q21.31 deletions will be identified by microarray analysis. Microarrays test all chromosomes for changes in copy number. The technique can find pieces of DNA that are missing and pieces […]

30 Jan

Assistance Programs

MIUSA – a disability lead, non-profit organization located in Eugene, Oregon (USA) advancing disability rights and leadership, globally. Click here to look through their library of helpful tip sheets! Miracle […]

12 Jan

Epilepsey in Koolen-de Vries Syndrome

The results of this epilepsy study are now published online in the journal Epilepsia. Epilepsia is the top-ranked epilepsy journal in the world. Please share the following citation with your neurologist so that […]

11 Jan

Dr. Morgan’s Speech and Language Research

Dr. Angela Morgan with the Hearing, Language and Literacy Group at Murdoch Childrens Research Insitute in Melbourne, Australia is studying speech and language difficulties in children, adolescents and adults with Koolen-de […]

10 Jan

Speech Survey – For Parents

Patty Tiberg has shared a study being performed by her son’s speech therapist. This questionnaire can be filled in by the parent of the KDVS individual. This questionnaire can be downloaded here: KDVS Speech […]