Partial Trisomy 16q+ (q13 to q24)
After struggling with infertility for many years, our dream came true on November 4, 1997 with the birth of our twin daughter and son, Julia and Samuel. Three days later we were informed by the doctors in the hospital that they wanted to run a chromosome test on Julie to rule out a chromosome disorder due to some dysmorphic facial features. After what seemed like the longest 10 days of our lives, the hospital called and asked us to come and meet with them to discuss the test results. When we walked into the room and saw the hospital social worker and a team of geneticists, we knew the news was not going to be good. Julie had an extra piece of chromosome 16q attached to the bottom of one of her chromosome 16. She therefore had a partial duplication of 16q from band q13 to q24 or three copies of this piece of chromosome 16, instead of two. To date, there are no reported patients with the exact same duplication as Julie has in the medical literature, which is why we are seeking information from any families with children with partial duplications of 16q.
Julie is now 14 months old and recently started crawling after four months of physical therapy due to low muscle tone in her upper trunk. In addition to PT, she also receives occupational therapy twice a week and special instruction once a week. She's extremely farsighted and occasionally tolerates glasses for a few minutes at a time. We're still in the dark about her cognitive skills, but we're encouraged by her ability to imitate some behaviors like clapping, peek-a-boo, and blowing raspberries. Most importantly, she's a happy baby and has a sweet disposition. Julie loves to hug all of her toys and people that she feels comfortable with (like her parents and brother). We feel fortunate to have her twin brother, Sam, as a developmental role model for her. Julie's diagnosis has been a bittersweet triumph over infertility, but she has brought a lot of love into our family and has only made us closer.