Objective: To examine sperm meiotic segregation in men with paracentric inversions.
Design: Cases reports, literature review.
Setting: Departments of reproductive biology, cytogenetics, gynaecology, and obstetrics.
Patient(s): Two patients referred for infertility, heterozygous for a paracentric inversion.
Intervention(s): Fluorescence in situ hybridization (FISH) with specific probes and X/Y/18 centromeric probes on 1,000 spermatozoa for the 2 patients and 10 controls.
Main Outcome Measure(s): Sperm aneuploidy frequency.
Result(s): The FISH analysis using the specific probes for the paracentric inversion indicated low disequilibrium (0.4% and 0.5%). The FISH analysis using X/Y/18 centromeric probes indicated aneuploidy frequencies (0.3% and 1.1%), identical to those of control patients with the same sperm parameters.
Conclusion(s): Paracentric inversion seems to be associated with a very low risk of aneuploidy. A larger study is necessary to explore all chromosome inversions.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.fertnstert.2006.05.087 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Multi-omics analysis detail a submicroscopic inv(15)(q14q15) generating fusion transcripts and MEIS2 and NUSAP1 haploinsufficiency.
Sci Rep
December 2024
Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76, Stockholm, Sweden.
Inversions are balanced structural variants that often remain undetected in genetic diagnostics. We present a female proband with a de novo Chromosome 15 paracentric inversion, disrupting MEIS2 and NUSAP1. The inversion was detected by short-read genome sequencing and confirmed with adaptive long-read sequencing.
View Article and Find Full Text PDFCentromeres are hotspots for chromosomal inversions and breeding traits in mango.
New Phytol
January 2025
School of the Environment, The University of Queensland, Brisbane, Qld, 4072, Australia.
Chromosomal inversions can preserve combinations of favorable alleles by suppressing recombination. Simultaneously, they reduce the effectiveness of purifying selection enabling deleterious alleles to accumulate. This study explores how areas of low recombination, including centromeric regions and chromosomal inversions, contribute to the accumulation of deleterious and favorable loci in 225 Mangifera indica genomes from the Australian Mango Breeding Program.
View Article and Find Full Text PDFIdentifying inversions with breakpoints in the Dystrophin gene through long-read sequencing: report of two cases.
BMC Med Genomics
September 2024
Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Background: Duchenne Muscular Dystrophy (DMD) is an X-linked disorder caused by mutations in the DMD gene, with large deletions being the most common type of mutation. Inversions involving the DMD gene are a less frequent cause of the disorder, largely because they often evade detection by standard diagnostic methods such as multiplex ligation probe amplification (MLPA) and whole exome sequencing (WES).
Case Presentation: Our research identified two intrachromosomal inversions involving the dystrophin gene in two unrelated families through Long-read sequencing (LRS).
Whole-Genome Sequencing Reveals a Novel Pathogenic GRIN2B Variant in a Patient with Neurodevelopmental Disorder and an inv(6)(p24p11.2)pat.
Cytogenet Genome Res
October 2024
Departamento de Biología Molecular y Genómica, Centro Universitario de Ciencias de la Salud, Universidad de Guadalajara, Guadalajara, Mexico.
Introduction: Neurodevelopmental disorders (NDDs) are diverse and can be explained by either genomic aberrations or single nucleotide variants. Most likely due to methodological approaches and/or disadvantages, the concurrence of both genetic events in a single patient has hardly been reported and even more rarely the pathogenic variant has been regarded as the cause of the phenotype when a chromosomal alteration is initially identified.
Case Presentation: Here, we describe a NDD patient with a 6p nonpathogenic paracentric inversion paternally transmitted and a de novo pathogenic variant in the GRIN2B gene.
Genome sequencing differentiates a paracentric inversion from a balanced insertion enabling more accurate preimplantation genetic testing.
Acta Obstet Gynecol Scand
August 2024
Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
Introduction: Distinguishing paracentric inversions (PAIs) from chromosomal insertions has traditionally relied on fluorescent in situ hybridization (FISH) techniques, but recent advancements in high-throughput sequencing have enabled the use of genome sequencing for such differentiation. In this study, we present a 38-year-old male carrier of a paracentric inversion on chromosome 2q, inv (2)(q31.2q34), whose partner experienced recurrent miscarriages.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!