ArticleMolecular cytogenetics2019
Clinical, cytogenetic, and molecular findings of isodicentric Y chromosomes.
Article in Molecular cytogenetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed.
- Prenatal diagnosis, genetic analysis, and pregnancy outcomes of fetuses with mosaic isodicentric Y chromosomes.Molecular cytogenetics · 2026Article
- Optical genome mapping for detection of chromosomal aberrations in prenatal diagnosis.Acta obstetricia et gynecologica Scandinavica · 2023Article
- Clinical, cytogenomic, and molecular characterization of isodicentric Y-chromosome and prediction of testicular sperm retrieval outcomes in azoospermic and severe oligozoospermic infertile men.Journal of assisted reproduction and genetics · 2022Article
- Genetic Implications of Male-Reproductive-Health-Associated Comorbidities.Turkish journal of urology · 2022Article
- Sex chromosome DSD individuals with mosaic 45,X0 and aberrant Y chromosomes in 46,XY cells: distinct gender phenotypes and germ cell tumour risksSystems biology in reproductive medicine · 2022Article
- Male infertility and genitourinary birth defects: there is more than meets the eye.Fertility and sterility · 2020Review
- Mixed Gonadal Dysgenesis with 45,X/46,X,idic(Y)/46,XY Karyotype: A Case Report.Journal of reproduction & infertilityArticle
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Authors and funding
2 authors.
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Abstract
backgroundIsodicentric Y chromosomes [idic(Y)] are one of the most common structural abnormalities of the Y chromosome. The prenatal diagnosis of isodicentric Y chromosomes is of vital importance, and the postnatal phenotypes vary widely. Therefore, we present six patients prenatally diagnosed with isodicentric Y chromosomes and review the literature concerning the genotype-phenotype correlations.
methodThe clinical materials of six patients were obtained. Cytogenetic and molecular approaches were carried out for these six patients.
resultsIsodicentric Y chromosomes were found in all sixpatients. Among them, four patients presented with a mosaic 45,X karyotype, one patient had a 46,XY cell line, and one patient was nonmosaic. Five of these six isodicentric Y chromosomes had a breakpoint in Yq11.2, and the other had a breakpoint in Yp11.3. The molecular analysis demonstrated different duplications and deletions of the Y chromosome. Finally, three patients chose to terminate the pregnancy, two patients gave birth to normal-appearing males, and one patient was lost to follow-up.
conclusionThe incorporation of multiple cytogenetic and molecular techniques would offer a more comprehensive understanding of this structural chromosomal abnormality for genetic counselling.
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