Background: The maternal age effect for trisomy is well known. However what is less established is whether certain women are more (or less) prone to segregation errors, independent of age. Trisomy arises primarily through maternal meiosis I chromosome segregation errors however the precise mechanism by which these errors occur is unclear. Current dogma attributes the origin of trisomy to malseg...

Background: Various frequencies of sperm aneuploidy are reported in sperms of subfertile patients compared to normal individuals. Moreover, sperm DNA damage is shown to be associated with male infertility. In this study, the rate of DNA damage and frequencies of aneuploidy in sperms of subfertile patients was investigated. Methods: Semen samples were obtained from healthy normal and subfertile ...

Preliminary data indicate that chemicals can also increase the frequency of sex-chromosome nondisjunction. Positive results--which certainly need further confirmation--have been obtained for MMS, p-fluorophenylalanine, vincristine, procarbazine, carbendazim, and bleomycin. Nocodazole, benomyl, colcemic, 6-mercaptopurine, and halothane were all negative at the concentrations tested. For the indu...

Lymphocyte chromosomes were examined in 36 patients with Alzheimer's presenile dementia, 36 healthy, age and sex matched controls, and 36 sex matched, non-demented, elderly controls, approximately 20 years older than the Alzheimer patients. Increased chromosome aneuploidy was found in females with Alzheimer's disease but not in male subjects. Chromosome abnormalities observed in female patients...

The accuracy of targeted cell-free DNA (cfDNA) testing with DANSRTM and FORTETM for trisomies 21, 18 and 13 has been well demonstrated and is consistent across next generation sequencing and microarray quantitation methods1. Targeted cfDNA analysis for fetal sex chromosome aneuploidy (SCA) has also been validated and shown to have high specificity in prospective studies2,3. This study expands u...

Objective: The aim of this study was to investigate the success and reliability QF-PCR analysis in detecting chromosomal abnormalities determine its advantages limitations. Methods: Patients who underwent karyotype as a prenatal invasive diagnostic test tertiary center were retrospectively analyzed. Invasive genetic indications, ultrasonographic fetal screening reports, results patients obtaine...

Although the frequency and consequence of sperm chromosomal abnormalities are considerable, few epidemiologic studies in large samples have been conducted to investigate etiologic risk factors. This is, in part, attributable to the labor intensive demands of manual sperm fluorescence in situ hybridization (FISH) scoring. As part of an epidemiologic study investigating environmental risk factors...

background: various frequencies of sperm aneuploidy are reported in sperms of subfertile patients compared to normal individuals. moreover, sperm dna damage is shown to be associated with male infertility. in this study, the rate of dna damage and frequencies of aneuploidy in sperms of subfertile patients was investigated. methods: semen samples were obtained from healthy normal and subfertile ...

Abstract Chromosomal instability (CIN) is a hallmark of cancer and contributes to tumorigenesis tumor progression. While structural CIN (S-CIN) leads chromosome aberrations, whole (W-CIN) defined by perpetual gains or losses chromosomes during mitosis causing aneuploidy. Mitotic defects, but also abnormal DNA replication (replication stress) can lead W-CIN. However, the functional link between ...

Aneuploidy commonly causes spontaneous abortions, stillbirths, and aneuploid births in humans. Notably, the majority of sex chromosome aneuploidies in live births have a paternal origin. An increased frequency of aneuploidy is also associated with male infertility. However, the dynamics and behavior of aneuploid spermatozoa during fertilization in humans have not been studied in detail. Therefo...