22q11.2 Deletion Syndrome
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چکیده
In 1965 DiGeorge described a patient with hypoparathyroidism and cellular immune deficiency secondary to thymic hypoplasia. Soon the pattern of malformation included in this syndrome expanded to include other defects of third and fourth branchial arches as well as dysmorphic facial features. In 1978 Shprintzen reported a group of children with cleft palate or velopharyngeal incompetence, cardiac defects and a prominent nose (velo-cardio-facial syndrome). It was subsequently determined that individuals with velo-cardio-facial syndrome and the majority of those with the condition described by DiGeorge have a deletion of chromosome 22q11.2. It is now understood that both these disorders represent different manifestations of the same genetic defect. [1]
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Case 17. 22q11.2 Deletion Syndrome
● Primary care physicians may encounter situations in which a genetic diagnosis is now possible in an individual with developmental delay whose previous genetic workup was negative. ● Testing for small chromosomal deletions, such as 22q11.2 deletion syndrome, represents an example of the improved diagnostic capabilities of current genetic testing. ● 22q11.2 deletion syndrome includes a range of...
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