| Information for patients and their
families involved in the research project: AnEUploidy: to study the influence of gene number in relation to the development of diseases. In general: At the department of Human Genetics of the Radboud University Medical Centre research is performed to unravel the causes of hereditary and/or congenital disorders. In one of these research projects the influence of gene number in relation to the development of diseases is studied. This study is performed in collaboration with other European research centres and is financially supported by the European Union. Background information: Chromosomes are the structures in the cells that contain our genes. Genes are the genetic blueprints that contain all the instructions that tell the body how to develop and work properly. In each cell of our body there are 30.000 genes which are located on 46 chromosomes. These 46 chromosomes occur as 23 pairs. Pair 1 to 22 are the same in man and women. The 23rd pair are called the sex chromosomes: females have two X chromosomes (XX) and males have an X and a Y chromosome (XY). Healthy people have 46 chromosomes in each cell of their body. He/she gets 23 chromosomes from his/her father and 23 chromosomes of his/her mother. Sometimes a piece of a chromosome is missing or duplicated. This is called aneuploidy. Two forms of aneuploidy exist: if a part of a chromosome is missing we call this a deletion, and if there is extra chromosomal material we call this a duplication. Such deletions and duplications can be a normal variant and, if so, will have no consequences. However, a part of these deletions and duplications will lead to disease. This European study aims to obtain more knowledge about these deletions and duplications in our genetic material by using new technical methods and by collecting the results of a large number of people. What does this mean for you? In your family a disorder exists which is possibly caused by a deletion or duplication of genetic material. In some of the participating families the exact genetic abnormality is already known while in other families the precise cause is still unknown. For the latter group there are no further diagnostic possibilities yet. However, if we find the genetic cause in this group it will give an explanation for the disorder in that family. Subsequently we will be able to inform you about the consequences of this abnormality and, if you wish, about the possible hereditary consequences for you and your family. You have to take into account that you are participating in a research project of which it is unknown in advance if we will indeed find the cause for the disorder in your family. Furthermore, results can take a long period of time, sometimes several years. What will we ask from you? You agreed to join this European research project with the goal to find the genetic cause of the disorder in your family and to extend our knowledge on deletions and duplications in general. Therefore a small amount of blood (20ml or 2 tubes) will be taken from you and/or your family member(s). This blood will be studied at the Human Genetics department of the Radboud University Medical Centre Nijmegen, in collaboration with other European centres. For some of the participants involved in this study it will not be necessary to obtain a new bloodsample because this has been done in the past, for other reasons. This material will still be available for our current study. Research will only be performed on those deletions and duplications which might play a role in the disorder in your family, or which could be a normal variant. There will be no study of other genetic factors. All samples used in this study will receive a unique code, deprived of personal details. This code is only available to the doctor who started the research and who is taking care of your family. The results of this research project are in the main interest of science. As stated before, the results could be of importance for you and/or your family. If this is the case, your doctor will be informed. Subsequently he/she can contact you. You will keep the right to withdraw from participation in this research project at any time. If so, the genetic material of you and/or your family will subsequently be destroyed on your request We hope this information was clear to you. If you have further questions please contact the doctor who has initiated the research in your family, or undersigned. Dr. B. de Vries, clinical geneticist Department of Human Genetics Radboud University Medical Centre Postbox 9101 6500 HB Nijmegen Phone: +31 24 3613946 Fax: +31 24 3565026 |