1995 Scientific Report
Research Summary for the Non-Scientist
Arthur Robinson, M.D.
Human Genetics and Cytogenetics
Our research continues to focus on human genetic disease, as follows: For 31 years we have been following a group of children with abnormalities of their sex chromosomes to study their growth and development. These conditions occur in 1/400 newborns, and we have been developing a clearer picture of ultimate adaptability to life stresses. We are developing ways of helping them to cope with their difficulties during adolescence, and are beginning to evaluate their problems as young adults.
The importance of this work is highlighted by the fact that over the past seven years I have received over 700 phone calls from all over the United States from physicians of women who had intrauterine diagnosis and were found to have a fetus with a sex chromosome abnormality.
We are now attempting to establish the developmental course of children with prenatally diagnosed SCA whose parents continued the pregnancy. Studies to date suggest that these children do better than those postnatally diagnosed. Because of the tremendously expanded use of prenatal diagnosis and the frequency of the intrauterine diagnosis of SCA (1/250 amniocenteses, as frequent as Down syndrome) the development of these individuals is of increasing importance in helping parents to decide whether or not to continue their pregnancies.
My own expertise in genetics is utilized by staff members in Pediatrics and Medicine to assist with clinical and research problems.
Published March 1996.©Copyright 1996. National Jewish Medical and Research Center.