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DiGeorge syndrome - clinical and genetical diagnosis

DiGeorge syndrome is reported in association with hemizygosisty for a region of chromosome 22q11 (the CATCH22 phenotypes, with cardiac defect, abnormal face, thymic hyperplasic, cleft palate and hypocalcaemia). Cytogenesis analysis was performed in 42 patients with suspected DiGeorge syndrome. Indication for FISH was phenotype - facial abnormalities, cleft soft and/or hard palate, congenital heart disease and hypocalcaemia. In 10 patient micro deletion was detected with FISH in DiGeorge region. Among those 10 patients 7 (70%) had significant congenital heart defects - 4 with tetralogy of Fallot, 2 with persistent truncus arteriosus and 1 child with pulmonary atresia. All of the CHD's are surgically successfully corrected. Clinical findings of immunodeficiency were present in 4 and hypocalcaemia in 3 children, respectively. In other 3 patients no CHD was detected but child had typical face and in 2 cases cleft of soft palate. In 32 cases genetical diagnosis of DiGeorge syndrome was not established with commercially available kit (D22S75 or N25). In that group 14 (43%) patients had CHD (3 - persistent truncus arteriosus, 2 - interruption of aortic arch, 5 - pulmonary atresia, 2- single ventricle with pulmonary atresia, 2- aortopulmonary window), while other 18 patient had only phenotype that suggested possible DiGeorge syndrome (12 - hypertelorism, 9 - low set small ear lobes, 7 - micrognatia, 4 - cleft palate). Clinical findings of immunodeficiency were present in 2 and hypocalcaemia in 3 children, respectively.

DiGeorge syndrome; diagnosis

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