Publication:

Ten-year experience retrospective in investigation of the frequency of sex chromosome aneuploidies diagnosed in a reference medical center in Türkiye

Background Sex chromosome aneuploidies (SCAs) are characterized by the gain or loss of entire or parts of sex chromosomes.

Methods In 5212 cases studied over the last 10 years in Medical Genetics Department, we found 3793 (72.78%) other chromosomal establishments and 1419 (27.22%) sex chromosomal aneuploidies using the retrospective archive-file scanning method.

Results 839 (31.32%) of the 1419 cases with anomalies were female, and 580 (22.8%) were male. While Triple X-Super Female Syndrome 423 (15.8%) is the most common in women, Klinefelter Syndrome 508 (20.0%) is the most common in men. Among the cases sent to our outpatient clinic for various indications (prediagnosis) for karyotype analysis, 1447 (54.0%) in women and 1193 (47.1%) in men were the cases with a prediagnosis of habitual abortion; followed by 298 (11.1%) infertility in women and 350 (13.8%) in men. While 167 (6.6%) people were sent with the preliminary diagnosis of azoospermia in men, it was determined to be 124 (4.6%) in women with primary amenorrhea. In the analysis we made according to the diagnosis, 1839 (68.7%) women and 1954 (77.1%) men were found to be normal. While the most important diagnosis is Triple X-Super Female syndrome 423 (15.8%) in women, Klinefelter syndrome 508 (20.0%) is the first in men. Turner Syndrome is found in 315 (11.8%) women, while Jacob’s syndrome (47, XYY) is detected in 13 (0.5%) men.

Conclusions As a result, the retrospective evaluation of 10-year cytogenetic analyses of these case groups contributes to the creation of regional data.