ReviewHuman genetics1995
Isodicentric Y chromosome: cytogenetic, molecular and clinical studies and review of the literature.
Review in Human genetics, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
20 citing papers in PubMed.
- Molecular analysis of individuals with suspected 46,XY differences of sex development in a homogenous and understudied population.Human molecular genetics · 2026Article
- Prenatal diagnosis, genetic analysis, and pregnancy outcomes of fetuses with mosaic isodicentric Y chromosomes.Molecular cytogenetics · 2026Article
- Chromosomal Instability and Chromoanagenesis as Forces for Genomic Evolution.Methods in molecular biology (Clifton, N.J.) · 2025Review
- 45,X[2]/46,X,der(Y).ish Psu idic(Y)(q11.2)[38] mosaic karyotype in mixed gonadal dysgenesis: a case report and literature review.Frontiers in pediatrics · 2024Article
- Optical genome mapping for detection of chromosomal aberrations in prenatal diagnosis.Acta obstetricia et gynecologica Scandinavica · 2023Article
- Clinical and molecular cytogenetic findings and pregnancy outcomes of fetuses with isochromosome Y.Molecular cytogenetics · 2022Article
- Review
- Clinical phenotype and management of individuals with mosaic monosomy X with Y chromosome material stratified by genital phenotype.American journal of medical genetics. Part A · 2021Article
- Article
- Nonmosaic Isodicentric Y Chromosome: A Rare Cause of Azoospermia- From Genetics to Clinical Practice.Case reports in endocrinology · 2020Article
- Clinical, cytogenetic, and molecular findings of isodicentric Y chromosomes.Molecular cytogenetics · 2019Article
- Short Stature on a Boy: Mosaicism with an Isodicentric Y Chromosome.Case reports in pediatrics · 2019Article
- Isodicentric Y mosaicism involving a 46, XX cell line: Implications for management.American journal of medical genetics. Part A · 2016Article
- A non-mosaic isodicentric Y chromosome resulting from breakage and fusion at the Yq pseudo-autosomal region in a fetus.Journal of assisted reproduction and genetics · 2013Article
- Isodicentric Yq mosaicism presenting as infertility and maturation arrest without altered SRY and AZF regions.Journal of assisted reproduction and genetics · 2012Article
- Startling mosaicism of the Y-chromosome and tandem duplication of the SRY and DAZ genes in patients with Turner Syndrome.PloS one · 2008Article
- Turner syndrome with pseudodicentric Y chromosome mosaicism.Journal of assisted reproduction and genetics · 2002Article
- A molecular and FISH analysis of structurally abnormal Y chromosomes in patients with Turner syndrome.Journal of medical genetics · 1999Article
- The association between the two more common genetic causes of spermatogenic failure: a 7-year retrospective study.Asian journal of andrologyArticle
- Mosaic isodicentric Y chromosome harboring intact AZF region in a cryptozoospermic male with normal hormone levels.Asian journal of andrologyArticle
Corrections and comments
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dicentrics are among the most common structural abnormalities of the human Y chromosome. Predicting the phenotypic consequences of different duplications and deletions of dicentric Y chromosomes is usually complicated by varying degrees of mosaicism (45,X cell lines), which may, in some cases, remain undetected. Molecular studies in patients with dicentric Y chromosomes have been few, and only two studies have attempted to determine the presence of SRY (the putative testis-determining factor gene). We report an 18-year-old female with short stature, amenorrhea, hirsutism, hypoplastic labia minora, and clitoromegaly who has a 45,X/46,X,idic(Y)(p11.32)/47,X,idic(Y)(p11.32),idic(Y) (p11.32) karyotype. Southern analysis using Y-specific probes (Y97, 2D6, 1F5, pY3.4) and polymerase chain reaction (PCR) analysis using primers for ZFY and SRY were positive for all loci tested, indicating that almost all of the Y chromosome was present. Our findings and an extensive review of the literature emphasize the importance of molecular analyses of abnormal Y chromosomes before any general conclusions can be reached concerning the relative effects of the Y-chromosome abnormality and mosaicism on sexual differentiation.
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Registered trials
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