13Q deletion syndrome is a chromosome disorder where one of the arms or the whole arm of the chromosome is missing at birth. This chromosome disorder was first diagnosed about 20 years ago. Depending on which band of the arm is missing, many symptoms can occur. Not all those diagnosed will have the below symptoms. Some have more, some have less. Please note that even if your loved one has the same band missing as a child on the list, it doesn't mean that your child will observe the exact challenges or successes of that child. Because the science of identifying the EXACT band is extremely difficult for the medical professionals (due to Millions of DNA), you must understand that the exact diagnosed missing band could be off slightly.
It has come to our attention that the newest diagnosis testing (Microarray) is much more accurate than the older testing. One child who was diagnosed 8 years ago just recently was diagnosed with a different band on the arm of CD13. It is advisable (if possible) to ask your doctor if testing can be done by Microarray for accuracy.
Global Developmental Delay
Small stature(weight and height)
Low Muscle Tone
Agensis Corpus Collisum
Missing Uterus (Females)
Microphthalmia of the eyes
Coolobomas of the eyes
Certain bones fusing together
ASDs or VSDs in the heart
Dandy-Walker brain malformation (linked to agenesis of corpus callosum)