Research

Duplication 12p

The Medical Genetics Division at the Floating Hospital for Children, Tufts-New England Medical Center, Boston, is conducting a study to better understand the diagnosis and prognosis for children diagnosed with a rare condition known as duplication 12p. In this condition, there are two copies of a section of the short arm of chromosome 12 on the same chromosome. This results in extra genes, causing multiple birth defects, including typical facial features, increased birth weight, and varying degrees of developmental delays. The purpose of the study is to find out what, if any long-term problems develop in children with duplication 12p. Parents of affected children who are interested in participating may contact Dr. Reeval Segel, Fellow in Medical Genetics, at (617) 636-1468 or Rsegel@tufts-nemc.org. Participation involves answering a questionnaire and giving permission for the researchers to obtain the child’s medical records. All information provided will remain strictly confidential.