Table of contentsAbstractIntroductionObjectivesMATERIALS AND METHODSResultsDiscussionConclusionAbstractThe association of advanced maternal age with chromosomal aneuploidies has been widely discussed and debated over the decades. The effect of paternal age has been underestimated and left room for analysis and discussion. In a retrospective study, we observed the paternal age of three chromosomal aneuploidies of the Indian population. Data from patients with confirmed karyotype included paternal age. Paternal age was divided into two groups (≤ 30 years) and (> 30 years). Linear regression analysis was applied to observe the correlation between paternal age and children born with aneuploidies. Interestingly, we could infer statistically significant paternal age as a confounding risk factor for chromosomal aneuploidy in both age groups for Down and Turner syndrome. These observations highlighted the need for a strategic approach in the management of couples at risk of cytogenetic abnormalities. Say no to plagiarism. Get a tailor-made essay on “Why Violent Video Games Should Not Be Banned”? Get the original essayIntroductionGametogenesis represents an integral phenomenon in reproductive cycles. Meiotic errors lean toward the genesis of abnormal germ cells with missing or extra chromosomes, causing aneuploidy. A higher proportion of abnormal oocytes (21%) was observed than spermatozoa (9%) (Martin HR 2008); the difference may be due to checkpoints during spermatogenesis. Advanced maternal age, the main factor in oocyte aneuploidy (Griffin 1996), has been widely discussed for decades. Reports on the effect of paternal age on aneuploidy conditions have given way to broader investigations and discussions. Hassold et al. (2007), estimates that paternal age is the causal factor in 5 to 10% of fetal trisomy. Different points of view are reported in recent literature associating paternal age and chromosomal aneuploidy. De Souza et al (2010) highlighted the weak association of paternal age, while an inverse relationship between paternal (parental) age associated with aneuploidy was proposed by Steiner et al (2015). It has been estimated that approximately 5-10% of Down syndromes have an effect proportional to paternal age, but age analysis was limited to age groups of approximately 40 years (Zaragoza et al 1994 , Hook et al 1984, Hook et al 1990). limited evidence from epidemiological genetics supports the correlation of the confounding factor of paternal age with chromosomal aneuploidies. This left room for the analysis of paternal age as a confounding factor for chromosomal aneuploidies.MATERIALS AND METHODSThis is a retrospective study. The data include one autosomal trisomy, one Down syndrome (DS), and two sex chromosomal aneuploidies, one each of Turner syndrome (TS) and one of Klinefelter syndrome (KFS) obtained during extensive research programs conducted during from the 2000s to 2010 in St. John's. College of Medicine, Bangalore. Paternal age of all cases at the time of conception was quantified in Excel. Paternal age at conception was the independent variable and they were divided into two groups: group 1 is aged ≤30 years and group 2 is aged >30 years. The upper limit of paternal age was 65 years. Children born in these paternal age groups were cytogenetically confirmed with DS, TS, and KFS. Dichotomized paternal age was quantified in EXCEL and linear regression analysis for r2 and p-value for significance of r ontbeen applied and calculated. ResultsIn the present study, paternal age of 394 [155 DS-male, 40 KFS, 127-DS Confirmed chromosomal aneuploidies were observed in females and 71 cases of TS] at the time of conception. Autosomal aneuploidies [DS] were more numerous than sex chromosomal aneuploidies [KFS and TS] taken together. The number of children born with chromosomal aneuploidies was compared to the paternal age of group 1 (≥ 30 years) Figure 1. There were 67 male DS children, 16 KFS, 60 female DS and 35 children TS identified in this paternal age group. Live births of autosomal trisomy (trisomy 21) and monosomy X (TS) were significantly more numerous than sex chromosomal trisomy (KFS). The interesting observation was that there was a significantly higher number of aneuploidies between paternal ages of 27 to 30 years. Figure 2, group 2 (<30 years) shows that the number of aneuploidies tended to be high between 31 and 40 years of paternal age, but decreased with increasing age. There were 88 male DS, 24 KFS, 67 female DS and 36 TS children identified in this paternal age group. The frequency of trisomy 21 (DS) and monosomy X was higher than that of KFS. The correlation determination coefficient analyzed by linear regression was grouped into a single table. There was a strong positive correlation between Group 1 (≤ 30 years) with autosomal aneuploidy (trisomy 21) for male and female DS children and monosomy . Group 2 (>30 years) had a significant negative correlation with the incidence of chromosomal aneuploidies. The negative correlation can be explained by the limited number of aneuploidies in children in group 2, mainly after the age of 45 years. DiscussionThe present study was designed to explore the correlation between paternal age and chromosomal aneuploidies, Down, Turner and Klinefelter syndromes (DS, TS, KFS). An unusual factor was noted in the study: there is a potential age effect for younger paternal age with the birth of DS and TS compared to KFS. Down syndrome (trisomy 21) Ninety percent of meiotic I errors during oogenesis in older women are strongly associated with DS, while they represent only 5% for spermatogenesis. A strong association was observed with meiotic errors I and II during spermatogenesis and paternal age. (Peterson et al 1993, Nicolaidis et al 1998, Sherman et al 1991). Most previous studies show that advanced paternal age, even if minimal, can be considered a causal risk factor for DS (McIntosh et al 1995, Hook et al 1984). Very limited studies have shown an inverse view that even younger paternal age may pose a risk of conceiving a child with DS, for example, fathers <20 years of age (14). The observations, in the present study, reflected the significantly higher risk of fathering a Down child at a younger paternal age. Research studies on the effect of parental age on sex chromosomal aneuploidies indicate that advanced paternal age may result in 0.2% of live births with sex chromosomal aberrations. Parental age of chromosomal aneuploidies of two sexes - Klinefelter and Turner syndromes, was observed in the present study. Klinefelter syndrome (47, XXY) The paternal contribution to the causality of KFS is approximately 50% (Wyrobek et al 2000). Klinefelter syndrome affects approximately 1 in 500 male births and is the most common cause of male infertility in men. There were conflicting opinions on the effect of,.