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DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. [7] While the symptoms can vary, they often include congenital heart problems , specific facial features, frequent infections, developmental disability , intellectual disability and cleft palate . [ 7 ]
22q11.2 distal deletion syndrome is a rare genetic condition caused by a tiny missing part of one of the body's 46 chromosomes – chromosome 22. 22q11.2 distal deletion syndrome appears to be a recurrent genomic disorder distinct from 22q11.2 deletion syndrome also known as DiGeorge syndrome (DGS; 188400) and velocardiofacial syndrome (VCFS; 192430).
This is the most common form of the condition, and is the classification most often associated with DiGeorge syndrome. [2] [5] Type C: The aortic arch is interrupted between the innominate artery and the left common carotid artery. This is the least common form of the condition. [2] [5]
Signs and symptoms depend on the specific type of defect. [3] Symptoms can vary from none to life-threatening. [7] When present, symptoms are variable and may include rapid breathing, bluish skin , poor weight gain, and feeling tired. [2] CHD does not cause chest pain. [2] Most congenital heart defects are not associated with other diseases. [3]
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Doctors and specialists at the Murdoch Children's Research Institute in Melbourne, Australia, are studying and reprogramming the potential of the blood to treat heart failure in children.
The holiday season is incomplete for many people without holiday movies. This year, Netflix is streaming a wide range of Christmas classics and original movies.
Announcing an Unmet Need. Some dogs may seem to bark for no reason, but we’ve got to give them some credit! Dogs have various needs, such as food, water, exercise, play, socialization, mental ...