Verification of a cryptic t(Y;15) translocation in a male with an apparent 45,X karyotype

Qin, Shengfang; Wang, Xueyan; Wang, Jin; Zhang, Zhuo; Chen, Ximin; Yin, Yan; Ye, Mengling; Li‐Ling, Jesse

doi:10.1186/s13039-022-00581-6

Cited by 2 publications

(1 citation statement)

References 31 publications

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“…[105] Using CQDs functionalized with different amino acids (glutamine, histidine, arginine, lysine and proline), Liu Yuanli et al described a chemosensor array for identifying multiple metal ions. [106] It can be seen that its sensing abilities towards different metal ions could be improved by using different biomolecules modified CDs.…”

Section: Biomoleculementioning

confidence: 99%

Modification of Carbon Dots for Metal‐Ions Detection

Fan

Liu

et al. 2023

ChemistrySelect

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It is very appealing to develop cheap, highly sensitive and efficient metal ion fluorescence sensors as traditional instrument methods are inherently costly and time‐consuming. Carbon dots (CDs) are widely used for sensing metal ions, attributing to their merits of good biocompatibility, low toxicity, easy surface modification and excellent photostability. This article reviewed the research progress of CDs as metal ion sensors in recent years, and studied their modification methods and detection performances. Finally, the challenges and opportunities of CDs as metal ion sensors were also analyzed. This article is expected to provide inspiration and help for researchers focusing on CDs as metal ion sensors.

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Section: Biomoleculementioning

confidence: 99%

Modification of Carbon Dots for Metal‐Ions Detection

Fan

Liu

et al. 2023

ChemistrySelect

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False-positive XXY results by interphase FISH in cytogenetically normal XX individuals: two cases highlighting the necessity of additional laboratory follow-up

Ding,

Bronson,

Byerly

et al. 2024

Mol Cytogenet

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Background Interphase fluorescence in situ hybridization (FISH) is commonly used for rapid aneuploidy detection in clinical settings. While FISH-based aneuploidy detection provides rapid results desirable for patient management, it usually only utilizes one probe per chromosome, which may lead to rare false-positive findings. Case presentation Here we report two interphase FISH results, which were false-positive for XXY in cytogenetically normal XX individuals. Both false-positive cases were due to hybridization of the Y chromosome centromeric probe DYZ3 to the pericentromeric region of chromosome 15. In both cases, chromosomal microarray revealed no detectable Y chromosome material, suggesting the hybridizations of the DYZ3 probe to chromosome 15 likely represent benign heterochromatic variants of no clinical significance. In one case, the DYZ3 hybridization was also identified in the phenotypically unaffected mother, further suggesting this is likely a rare variant of no clinical significance. Conclusions This report marks the first documentation of hybridization of the DYZ3 probe to another chromosome in cytogenetically normal individuals. Our report has important clinical implications, because DYZ3 is widely used by clinical laboratories for Y chromosome detection. Our findings underscore the necessity of confirming abnormal aneuploidy detection FISH results with additional laboratory methods such as chromosomal microarray analysis.

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Verification of a cryptic t(Y;15) translocation in a male with an apparent 45,X karyotype

Cited by 2 publications

References 31 publications

Modification of Carbon Dots for Metal‐Ions Detection

Modification of Carbon Dots for Metal‐Ions Detection

False-positive XXY results by interphase FISH in cytogenetically normal XX individuals: two cases highlighting the necessity of additional laboratory follow-up

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