GENETICS Impact of chromosomal heteromorphisms on reproductive failure and analysis of 38 heteromorphic pedigrees

Purpose To compare the frequency of chromosomal hetero-morphisms in reproductive failure and fertile control indi-viduals in Northeast China, and investigate the impact on reproductive failure Methods 1751 males and 1424 couples with reproductive failure (n04599) and 777 fertile control individuals in North-east China were enrolled. Chromosome karyotype analysis was performed on peripheral blood lymphocytes with stan-dard G-banding. Additionally, C-banding was performed with heterochromatin heteromorphisms, and NORs-banding with satellites/stalks variations. Multiplex polymerase chain reac-tion (PCR) adopted for the amplification using nine specific sequence tagged sites (STS) were used to detect Y-chromosome microdeletions with Y chromosome variations (Yqh±). At the same time, 38 heteromorphic probands ’ family members were recalled for performing karyotype analysis and to be surveyed for their detailed reproductive history. Results The frequency of chromosomal heteromorphisms in reproductive failure patients (2.74 %, 126/4599) was of no statistically significant difference as compared with fertile control individuals (2.06 %, 16/777) (P>0.05). Eight cases of Y variation (Yqh±) probands with Y-chromosomal micro-deletions were detected among 44 reproductive failure patients and 6 fertile control men. In the 38 recalled fami-lies, the probands of fathers or mothers, even some of their brothers or sisters, had the same heteromorphic karyotypes as probands ’ despite that they didn’t have any adverse reproductive history. Conclusions There was no statistically significant differ-ence in frequency of chromosomal heteromorphisms be-tween reproductive failure and fertile control individuals in Northeast China. Males with Y variations (Yqh±) should be ordered Y-chromosomal microdeletions detection. Through the analysis of 38 recalled families, we can also conclude that chromosomal heteromorphisms were not the impact factors for reproductive failure