Life with 2q23.1 microdeletion syndrome (chromosome 2)
Chips, Cheese & Sometimes Marshmallows? What? Let me explain, if anyone knows my daughter Asia this completely makes sense:) Not only do we have many medical issues but, food issues are one of our major daily obstacles. You'll see...
Asia's List of Symptoms (2q23.1)
Whether or not all of Asia's Symptoms are related to the 2q23.1 microdeletion is unknown at this time:
At this time her symptoms are: Seizures, Hypotonia (muscle weakness), Development delay, Motor Delay, Language impairment, Non-verbal, Ataxia, Behavioral problems, Sleep disturbances, Short attention span, Repetitive behavior, Aggression, Autistic-like Symptoms, Sensory Processing Disorder (hypo-sensitive), Tongue-tied, Sacral Dimple, Possible Macroglossia (large tongue), Sandal Gap on foot, Constipation, Blepharitis, Hearing loss & Microcephaly.
~This list may be edited with new information~ There are additional symptoms with this rare syndrome that Asia does not have.
Many people contact me to ask what type of testing Asia had to get her diagnoses. Asia had a simple blood test performed which is called a "Cytogenic Microarray". There is a post in the blog that goes over this a little more.
Conact Info and Support Group
2q23.1 Microdeletion Syndrome has a great support group on Facebook. It is a closed group where parents can discuss their questions/concerns about their children with 2q. When logged into FB just search 2q23.1 Microdeletion Syndrome and find the closed group and "join". Also, please feel free to email me with any questions atseasonatwater@gmail.com
Monday, March 4, 2013
What is 2q23.1 Microdeletion Syndrome?
~Here is a quick little summary of 2q23.1~
I will do a post that is a little more in depth about Asia and her symptoms-this is a great "quick' summary. (Thank you to the one who created it.)
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