My name is Nadia Simoes de Souza and I am a second-year Dutch medicine student at the University of Groningen. I participate in the Junior Scientific Masterclass (JSM), a study trajectory that combines my medical study with research. As part of the JSM I am going to work on a project concerning terminal 6q26-6q27 deletions in collaboration
with the Chromosome 6 Project Group.
Continue reading FB update – May 2017
Dear C6 parents,
I would like to update you about the project I am currently working on describing the effect of proximal 6q deletions.
A proximal 6q deletion is a deletion located in the proximal long arm (q) of chromosome 6. Proximal means close to the centromere, the central part of the chromosome. Proximal 6q includes bands 6q11 to 6q16, and show in figure 1 to the right.
In the beginning of 2016 I posted an update on the clinical features seen in 35 patients with a proximal 6q deletion. (See Facebook update 2016 #1)
At that time, we noticed highly variable developmental delay in this group. I therefore continued with a more detailed study focussing on development and behaviour. In the meanwhile, the number of patients known to us with a proximal 6q deletion increased to 39.
Continue reading FB update – January 2017
Dear C6 parents,
My name is Lya den Ouden. I am a recently retired paediatrician and the grandmother of a lovely 3-year-old boy with a distal 6q deletion. When he was diagnosed at the age of 15 months, his parents were told that this was a very rare disorder and that nobody could tell them what to expect for his future health and development or what extra help he may need.
So, when I learned from the C6-project, I volunteered to help study the relation between genotype and phenotype. My focus is on the intermediate deletions (see figure below).
In this update we want to give an overview of the effect of chromosome 6 deletions between 6q16.1 and 6q22.33. I have highlighted that region by a red box in the figure. This overview is comparable to what we did earlier this year for the proximal 6q deletions (see the update of January 2016)
What have we done?
We have compared the size and location of the deletions (the genotype) to the clinical features (the phenotype) in the 14 Chromosome 6 research project participants with a 6q16.1-q22.33 deletion. We have also included 71 cases from the medical literature. In total we describe 85 individuals with intermediate deletions.
Continue reading FB update – November 2016