Objective: To report the sex chromosome aberrations in the sperm of a patient with mosaic Klinefelter's syndrome before ICSI.
Design: Case report.
Setting: Institute of Human Genetics, University Hospital
Patient(s): A patient with an XXY/XXXY/XY mosaic Klinefelter's syndrome and extreme oligozoospermia.
Intervention(s): Skin biopsy, buccal smear, hair root sampling, and semen sampling.
Main Outcome Measure(s): The karyotypes of three additional somatic cell systems and the ratio of sex chromosome aberrations in sperm.
Result(s): After two-color fluorescence in situ hybridization of 202 interphase sperm nuclei, both the proportion of hyperhaploid 24, XY and 25, XXY sperm (5.0% and 0.5%, respectively) and of hyperhaploid 24, XX sperm (2.0%) were elevated. In contrast with peripheral lymphocytes, 93.9% of which showed sex chromosome aberrations, in the present patient only 7.5% of sperm proved to be hyperhaploid with an extra sex chromosome.
Conclusion(s): The determination of sex chromosome aberrations in the sperm of a patient with mosaic Klinefelter's syndrome may provide additional information to estimate the transmission risk to his offspring.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/s0015-0282(97)00539-6 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Influence of sex in the development of liver diseases.
Semin Liver Dis
January 2025
Hepatobiliary Surgery, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China.
The liver is a sexually dimorphic organ. Sex differences in prevalence, progression, prognosis and treatment do prevail in most liver diseases, and the mechanism of how liver diseases act differently among male versus female patients have not been fully elucidated. Biological sex differences in normal physiology and disease arise principally from sex hormones and/or sex chromosomes.
View Article and Find Full Text PDFComparison of laboratory characteristics and clinical prognosis of APL with negative and positive PML-RARα gene.
Medicine (Baltimore)
November 2024
Clinical laboratory, The First Affiliated Hospital of Hebei North University, Zhangjiakou, China.
This study analyzes the laboratory characteristics and prognosis of patients between PML-RARα negative APL and PML-RARα positive APL and compares the differences in order to improve the understanding of this rare APL and guide clinical diagnosis and treatment. A total of 81 patients with newly diagnosed APL based on bone marrow cell morphology were included, with 14 in the PML-RARα gene negative group and 67 in the PML-RARα gene positive group. The sex, age, peripheral blood routine test, coagulation related indicators, bone marrow cell morphology, flow cytometric immunophenotype, abnormal chromosome expression and prognosis of the 2 groups were analyzed and compared.
View Article and Find Full Text PDFSerum Nutrients, Periodontitis and Biological Ageing.
J Clin Periodontol
January 2025
Department of Biomedical Sciences, School of Dental Medicine, University of Nevada, Las Vegas, Las Vegas, Nevada, USA.
Introduction: Telomeres are nucleotide sequences found at the end of chromosomes, and their shortening is associated with chronological and biological ageing, oxidative stress and malnutrition. Shorter telomeres have been shown to be associated with periodontitis. Dietary nutrients are also influential factors in the aetiology and progression of periodontitis and other chronic inflammatory diseases.
View Article and Find Full Text PDFNASCI case of the month: "pseudo normalization of T1 values in Anderson-Fabry disease".
Int J Cardiovasc Imaging
January 2025
Michigan Medicine, University Hospital, Floor B1 Reception C 1500 E Medical Center Dr SPC 5030, Ann Arbor, MI, 48109, USA.
Anderson-Fabry disease (AFD) is a X-linked lysosomal storage disorder that can result in cardiac dysfunction including left ventricular hypertrophy (LVH) and conduction abnormalities (Frontiers in cardiovascular medicine vol. 10) [1]. The manifestations of AFD in women may be isolated to one organ and occur late in life due to the random inactivation of the X chromosome.
View Article and Find Full Text PDFArgonaute proteins are best known for their role in microRNA-mediated post-transcriptional gene silencing. Here, we show that AGO3 and AGO4, but not AGO2, localize to the sex chromatin of pachytene spermatocytes where they are required for transcriptional silencing of XY-linked genes, known as Meiotic Sex Chromosome Inactivation (MSCI). Using an mouse, we show that AGO3 and AGO4 are key regulators of spermatogenesis, orchestrating expression of meiosis-related genes during prophase I while maintaining silencing of spermiogenesis genes.
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!