• This is a little easier to look at!• Tall spikes mean that there is a lot in

common at that point…

1 432 5 6 7 98 10 1211 13 14 1517

16 1819

20212223

Chromosome Number

Uh Oh! Nothing stands out!

• Let’s look closely… Can we see if there is a difference among our young patients that is statistically unlikely to happen in the normal population?

• We can! • It’s a Chi-Square statistics test and it allows

us to look at our data in a slightly different way…

1 432 5 6 7 98 10 1211 13 14 1517

16 18 19202122

23

Chromosome Number

What’s this? A big spike at chromosome 17 says something is wrong here! The patients are different from the rest of the population in a way that is statistically significant!

• http://www.ncbi.nlm.nih.gov/sites/entrez?db=omim

• Search terms… macrocephaly AND polyhydramnios AND seizures

• Looking at our 8 results… which ones have gene problems at chromosome 17…

• POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY; PMSEGene map locus 17q23.3

• It’s our only result on chromosome 17, the area the patients all have a common difference…

• So, what IS this poly-whatever? –Let us read….

Sound about right?

Good. We have a diagnosis.

Pretzel Syndrome. But that is only ONE GENE!

How is this possible?

• Is not easy! • Take into account how ALL the systems

react and interact.• “One goes out, they ALL go out!”