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Pennsylvania House of Representatives
https://www.legis.state.pa.us/cfdocs/Legis/CSM/showMemoPublic.cfm?chamber=H&SPick=20150&cosponId=18187
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House of Representatives
Session of 2015 - 2016 Regular Session

MEMORANDUM

Posted: April 24, 2015 10:28 AM
From: Representative Matthew E. Baker
To: All House members
Subject: 22Q Deletion Syndrome Awareness Week
 
In the near future, I plan to introduce a House Resolution recognizing the week of May 17-23, 2015 as “22q11.2 Deletion Syndrome Awareness Week” in Pennsylvania.
22q11.2 Deletion Syndrome (22q), also known by the names DiGeorge syndrome, Velo-cardio-facial syndrome, and conotruncal anomaly face syndrome, among others, is a congenital defect in which a small part of chromosome 22 is missing from the time of conception. 22q can cause a wide range of health and developmental issues, including heart defects, breathing issues, problems with the gastrointestinal tract, immune and endocrine systems, differences in the palate, slow growth, and developmental delays or learning disabilities in some individuals.

Although it affects about one in every 4,000 live births, 22q is often underdiagnosed since symptoms may be confused with a number of common ailments. Since there is currently no known cure for 22q, continued research and awareness is vitally important.

The Children's Hospital of Philadelphia is an internationally recognized leader in the diagnosis and treatment of children with chromosome 22q11.2 deletion, having evaluated more than 1,200 patients.

With broader awareness of this complex syndrome, the likelihood of a correct diagnosis can be substantially increased. Please join me in cosponsoring this important resolution



Introduced as HR332