Cyclic Vomiting Syndrome in a Baby with 22q 11 Deletion Syndrome
نویسنده
چکیده
22q 11 deletion syndrome (22q11DS; Online Mendelian inheritance in man #192430) also known as velocardiofacial or DiGeorge syndrome, is a genetic disorder resulting from a hemizygous microdeletion of the long arm of chromosome 22. It has an estimated prevalence of 1 out of 4000 live births and results in a heterogeneous clinical presentation that is irrespective of deletion size and can be associated with multi-organ dysfunction. Its physical manifestations frequently include cleft palate, hypocalcemia, cardiac defects and immune dysfunction [1,2].
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