Clinical, cytogenetic, and molecular findings of isodicentric y chromosomes

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Abstract

Background: Isodicentric 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. Method: The clinical materials of six patients were obtained. Cytogenetic and molecular approaches were carried out for these six patients. Results: Isodicentric 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. Conclusion: The 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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Yang, Y., & Hao, W. (2019). Clinical, cytogenetic, and molecular findings of isodicentric y chromosomes. Molecular Cytogenetics, 12(1). https://doi.org/10.1186/s13039-019-0465-x

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