Brachydactyly-Mental Retardation Syndrome (2q37 deletion)
Title of Study: Brachydactyly-Mental Retardation syndrome
Nickname: 2q37 deletion study
Principal Investigator: Micheala Aldred, PhD
Genetic Counselor Coordinator: Emily Edelman, MS (email: edelmae@ccf.org)
Brief Description of Study:
We are recruiting patients who have (1) a typical BMRS presentation and no 2q37 deletion identified and (2) patients with a known 2q37 del. The focus of this research is to identify one or more critical genes in the region and determine if there are genotype/phenotype correlations.
Specimen requirements:
40ml whole blood in four 10ml yellow top (ACD solution) vacutainer tubes. For small children, draw 10 ml in a single 10 ml ACD (yellow-topped) tube. If a blood draw is undesirable, we will also accept DNA or a saliva sample. At your request, we can provide you with a kit. Please email Gloria at hunterg@ccf.org with your address and the number of kits you would like.
