She was placed on growth hormone treatment. When we saw her a second time at age 31 months, her score had improved in four categories and her general cognitive development was at 32 months. Her cognitive skills have advanced significantly, as have her language skills, and her fine and gross motor skills have also shown tremendous progress. Studying it is quite a challenge, since each child is missing a unique set of genes and the physical characteristics of each case vary widely. The normal human genetic endowment, or human genome, consists of two pairs of 23 chromosomes in each cell.
Children inherit one set of chromosomes from their mother and another from their father.
The human genome contains an estimated 100,000 genes, but of course, we're focusing on a much smaller area. We are examining the clinical features of the syndrome in each child and then determining which genes are deleted in each individual. A model of scientific teamwork, the 18q minus project involves 20 investigators from seven Health Science Center departments. It is privately funded. The team has examined 40 children so far.