Faculty, İnönü University, in terms of major chromosomal aberrations, with varied clinical prediagnoses of phenotypic dysmorphogenesis retrospectively.
Methods: For this purpose, chromosomes of 204 patients were obtained by peripheral lymphocyte tissue culture technique and karyotypes were investigated using the G-band method. Besides the clinical presentation features, associated anomalies and maternal characteristics were noted.
Results: Chromosomal anomalies were detected in a total of 57 (27,9%) children. These were as follows, trisomy 21 (21,57%), Turner syndrome (2.94%), trisomy 13 (1.96%), trisomy 18 (0.49%), mosaic-trisomy 8 (0,49%) and inv (9)(p11; q13) (0.49%). Mongoloid slant, epicanthal folds, hypertelorism, simian crease, flat nasal bridge, and microcephaly were observed in >60% of Down syndrome cases. Congenital heart disease was documented in 13 (32.5%) cases. Increasing maternal age was found 37 (84.1%) cases with trisomy 21.
Conclusions: The findngs obtained from the results in the study have indicated that, among etiologic factors leading to congenital malformations, chromosomal abnormalities play a significant role. To evaluate congenital anomalies with chromosomal aberrations, the teamwork of geneticists and pediatricians increases the probability of determining the etiological diagnosis properly. This is essential to decrease the parents’ reproductive risk, thus contributing to primary prevention of congenital anomalies.
Key Words: Major chromosomal aberrations, Cytogenetics, Postnatal
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