[Catch-22? Wide variety of phenotypes associated with the chromosome 22q11 deletion syndrome in two patients].

Abstract excerpt

The chromosome 22q11 deletion syndrome may present with a variety of phenotypes. Its symptoms generally include a characteristic facial dysmorphisms and multiplex developmental disorders. Fluorescence in situ hybridization is the current method of choice for the diagnosis if typical multiple defects and/or symptoms are present. The authors present the history of two patients who were followed-up for minor...

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