Zespół mikrodelecji 22q11.2 (zespół DiGeorge’a) bez współistniejącej wady serca – analiza fenotypu pacjentów i problemy diagnostyczne

Conclusions It is difficult to diagnose DiGeorge syndrome in patients who do not present heart disease. In such cases careful phenotypical analysis and microdeletions screening with MLPA method may be helpful to make a diagnosis. To establish appropriate therapy and further clinical evaluation exact and early diagnosis is crucial. There lacks diagnostic guidelines for patients with unexplained developmental delay and/or developmental malformations.
Source: Pediatria Polska - Category: Pediatrics Source Type: research