ArticleJournal of human reproductive sciences
Clinical Manifestations of Chromosomal Anomalies and Polymorphic Variations in Patients Suffering from Reproductive Failure.
Article in Journal of human reproductive sciences. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.
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Who cites it
7 citing papers in PubMed, 1 synthesis or guideline pooled it, 16 citations in OpenAlex.
- A comprehensive analysis of chromosomal polymorphic variants on reproductive outcomes after intracytoplasmic sperm injection treatment.Scientific reports · 2023Pooled it
- Identification of a Rare Variant in theCase reports in genetics · 2025Article
- The Value of Parental Karyotyping in Recurrent Pregnancy Loss Lies in Individual Risk Assessments.Medicina (Kaunas, Lithuania) · 2024Article
- Challenges in classifying human chromosomal heteromorphisms using banding cytogenetics: From controversial guidelines to the need for a universal scoring system.Human genome variation · 2024Review
- Cytogenetics investigation in 151 Brazilian infertile male patients and genomic analysis in selected cases: experience of 14 years in a public genetic service.BMC research notes · 2024Article
- Repetitive Elements in Humans.International journal of molecular sciences · 2021Review
- A Case-Control Study Identifying the Frequency and Spectrum of Chromosomal Anomalies and Variants in a Cohort of 1000 Couples with a Known History of Recurrent Pregnancy Loss in the Eastern Region of India.Journal of human reproductive sciencesArticle
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHuman reproduction is the most intricate event as ~ 20% of human pregnancies end in miscarriages for which chromosomal anomalies are a common factor. The chromosomal variations associated with reproductive failures include translocations, inversions, supernumerary marker chromosomes, heterochromatic polymorphisms, etc., Till date, the significance of heteromorphic variants in reproductive failures is unclear.
aimThe aim of this study is to investigate the role of chromosomal anomalies and polymorphic variations in reproductive failure. MATERIALS AND
methodsChromosomal analysis using GTG banding was performed on 638 couples (1276 individuals).
resultsIn the present study, 138 of 1276 individuals showed chromosomal variations with respect to heterochromatic variants and Robertsonian translocations. The most common variants observed across the population studied were the pericentric inversion of the chromosome 9 [inv(9)(p11q13), 3.68%] followed by pstk + on the short arm of chromosome 15 (15pstk+, 1.95%) and Robertsonian translocation of chromosomes 13 and 14 [rob(13;14)(q10;q10), 1.25%]. The maximum percentage of heterochromatic variation was observed in females with recurrent pregnancy loss (Groups A, 4.78%) and males with wives having recurrent miscarriages (Group B, 3.68%) and the minimum was recorded in patients with
conclusionsHigh level of chromosomal polymorphic variations in patients with reproductive failures warrants their in-depth analysis to nail down the causative factors. Hence, cytogenetic analysis coupled with genetic counseling becomes indispensable for patients suffering from infertility, reproductive failures and pregnancy losses before IVF treatment to rule out the carrier status.
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