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Pathology
A 2-year-old child has been followed for mental retardation and slow development, as well as multiple bih defects. The child has a high-pitched catlike cry. On examination, microcephaly, hypeelorism, micrognathia, epicanthal folds, low-set ears, and hypotonia are noted. Karyotypic analysis would be expected to show
5p-
22q11-
45,XO
46,XY
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