It gives a good summary of diagnosis, symptoms, treatments and so on. A lot of it isn't new, but the data is current and there were some new items that caught my attention. Skeletal abnormalities is a topic I hadn't really heard much about. The paper says a possible result of a 1p36 deletion is scoliosis, malformation of the ribs, or asymmetry of the legs in approximately 40% of the patients. Melanie and I will have to bring that up the next time we meet with Whitney's doctor.
Prevalence of 1p36 Deletion Syndrome in newborns is still measured to be between 1 in 5,000 and 1 in 10,000 with a two to one ratio of girls to boys with the disorder.
One thing that made me happy is the rate of detection using FISH testing and Array CGH testing is above 95%. That makes for better informed parents who can begin to care appropriately for their little ones affected by this deletion without the period of uncertainty that many in the past faced.
The paper is understandably heavy on medical terminology, but it's still worth the read. You can find it here.
Whitney's annual visit to see the geneticist is tomorrow morning, so I'll share how things went coming up. I think I'll also print a copy of this paper to take along for the doctor to have.