15q24 Microdeletion Syndrome

As you can probably guess from the title of this post, we finally have a medical diagnosis that more fully describes Matt-man and his many unique features and challenges (thanks to some expensive lab tests known as the CGH microarray and FISH).  We learned that Matthew is missing 9 genes on the long arm of his 15th chromosome including NEIL1, MAN2C1, SIN3A, PTPN9, SNUPN, IMP3, CSPG4, MIR631, and SNX33.  It doesn't really change anything, but it gives us a better idea of what to expect and what other health concerns to be on the lookout for.  Many of the things we find most endearing about Matt-man, like the cute way his ears poke out, are a part of 15q24 microdeletion syndrome.  Here is a great link to an informational booklet about the syndrome 15q24 Microdeletion Syndrome.  It describes things much more clearly than I could.  Unfortunately, genetics is not my medical specialty!