Monday, April 21, 2014

Q21.1 Micro Duplacation

Overview:
this is a chromosome disorder that can vary in symptoms

Symptoms:

  • Relatively large head

  • Increased possibility of mild or moderate developmental delay

  • Increased possibility of autism or autistic-like behaviour

  • Slightly unusual facial features

  • Heart problem

  • Seizures

  • Increased risk for other inborn anomalies


Testing/Diagnosis:
this is done by a blood test called fish

Treatment:
you can only treat the symptoms

Resources:
unique and rarechromo.org are two places to look

Personal Story:
well my 8 yr old got tested at five and he was presenting with ADHD,sight problems with eye turning,hearing loss,lots of lung issues,sleep apnea,asthma,low muscle tone,seizures,malrotation,narrowed trachea,he may need cpap in the future hernia,hydro seal ,tonsils and adenoids have been taken out and my three year old is going through all of this to

 

Contributed by MOM aimee

For more information click HERE

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