Współwystępowanie wad wrodzonych serca, rozszczepu podniebienia i innych cech dysmorficznych u dzieci jako przesłanka diagnostyczna poszukiwania zespołów delecji 22q11.2

Currently around 180 dysmorphic features and malformations are described as characteristically occurring with different frequencies in 22q11.2 deletion syndromes. Congenital heart defects (particularly conotruncal), dysmorphic facial features and cleft palate are deemed to be the most significant among these defects. However, these features do not form a single, clearly distinct clinical picture, that would allow for a highly probable diagnosis on the level of phenotype and a high frequency of confirmed diagnosis in subsequent cytogenetic and molecular tests. We analyzed 41 patients (and their parents) presenting different combinations of the above - mentioned diagnostic features. The patients were classified into groups: A. heart defect + facial dysmorphism = 18 patients, B. cleft palate + facial dysmorphism = 1 patient, C. heart defect + cleft palate = 17 patients, D. characteristic facial dysmorphism alone = 5 patients. High-resolution karyotyping as well as FISH analysis (both N25 as TUPLE1 probes) were performed in all the probands. 22q11.2 deletion was found in 4 (9,7%) and was absent in 37 patients. Karyotype analysis in 7 cases (17%) revealed the presence of other numerical and structural chromosomal aberrations. Referral on the basis of combined occurrence of heart defect, cleft palate and facial dysmorphies for further cytogenetic and molecular analyses does not result in a high frequency of diagnosis of 22q11 deletion syndromes. This implies considerable uncertainty in the phenotypic diagnosis of these syndromes. In patients with negative results in FISH analysis, further molecular tests are indicated, (CGH, analysis of polymorphic markers -STRP) both for the detection of possible familial predisposition as well to search for other possible karyotypic anomalies.