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

BACKGROUND: A rare disease is that an individual with a non-chimeric karyotype of 45,X develops into a male. We explored the genetic aetiology of an infertile male with an apparent 45,X karyotype, which was subsequently verified as cryptic translocation between chromosomes Y and 15. METHODS: DNA was...

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Autores principales: Qin, Shengfang, Wang, Xueyan, Wang, Jin, Zhang, Zhuo, Chen, Ximin, Yin, Yan, Ye, Mengling, Li-Ling, Jesse
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8842983/
https://www.ncbi.nlm.nih.gov/pubmed/35164811
http://dx.doi.org/10.1186/s13039-022-00581-6
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author Qin, Shengfang
Wang, Xueyan
Wang, Jin
Zhang, Zhuo
Chen, Ximin
Yin, Yan
Ye, Mengling
Li-Ling, Jesse
author_facet Qin, Shengfang
Wang, Xueyan
Wang, Jin
Zhang, Zhuo
Chen, Ximin
Yin, Yan
Ye, Mengling
Li-Ling, Jesse
author_sort Qin, Shengfang
collection PubMed
description BACKGROUND: A rare disease is that an individual with a non-chimeric karyotype of 45,X develops into a male. We explored the genetic aetiology of an infertile male with an apparent 45,X karyotype, which was subsequently verified as cryptic translocation between chromosomes Y and 15. METHODS: DNA was extracted from the patient's peripheral blood. A range of genetic testing was performed, including conventional chromosomal karyotyping, short tandem repeat (STR) analysis for azoospermia factor (AZF) region, fluorescence in situ hybridization (FISH) with specific probes groups of DXZ1/DYZ3, DYZ3/D15Z1/PML and SRY/D15Z1/PML, and chromosomal microarray analysis (CMA) for genomic copy number variations (CNVs). RESULTS: The patient was found to have an apparent 45,X karyotype. STR analysis showed that he possessed a short arm of the Y chromosome, including the SRY gene; however, he was missing the long arm of the Y chromosome, including AZFa + b + c and Yqter. A FISH assay of DXZ1 and DYZ3 probes showed a green signal of the X centromere and a red of the Y centromeric signal on a D-group-sized chromosome. By FISH assaying with D15Z1 and DYZ3 probes, chromosomes 15 and Y centromeric signals appeared closely on a single chromosome, as the PML control probe ascertained. A further FISH assay with D15Z1 and SRY probes revealed a signal of the SRY gene at the end of one arm of chromosome 15. The result of the CMA indicated a deletion with an approximate size of 45.31 Mb spanning from Yq11 to Yter. CONCLUSION: Our study enriched the karyotype-phenotype correlation of Y and 15 chromosomes translocation. It strengthened the critical roles of molecular genetic techniques in identifying the chromosomal breakpoints and regions involved. Genetic aetiology can guide early intervention in childhood and assisted reproduction in adulthood.
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spelling pubmed-88429832022-02-16 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 Mol Cytogenet Research BACKGROUND: A rare disease is that an individual with a non-chimeric karyotype of 45,X develops into a male. We explored the genetic aetiology of an infertile male with an apparent 45,X karyotype, which was subsequently verified as cryptic translocation between chromosomes Y and 15. METHODS: DNA was extracted from the patient's peripheral blood. A range of genetic testing was performed, including conventional chromosomal karyotyping, short tandem repeat (STR) analysis for azoospermia factor (AZF) region, fluorescence in situ hybridization (FISH) with specific probes groups of DXZ1/DYZ3, DYZ3/D15Z1/PML and SRY/D15Z1/PML, and chromosomal microarray analysis (CMA) for genomic copy number variations (CNVs). RESULTS: The patient was found to have an apparent 45,X karyotype. STR analysis showed that he possessed a short arm of the Y chromosome, including the SRY gene; however, he was missing the long arm of the Y chromosome, including AZFa + b + c and Yqter. A FISH assay of DXZ1 and DYZ3 probes showed a green signal of the X centromere and a red of the Y centromeric signal on a D-group-sized chromosome. By FISH assaying with D15Z1 and DYZ3 probes, chromosomes 15 and Y centromeric signals appeared closely on a single chromosome, as the PML control probe ascertained. A further FISH assay with D15Z1 and SRY probes revealed a signal of the SRY gene at the end of one arm of chromosome 15. The result of the CMA indicated a deletion with an approximate size of 45.31 Mb spanning from Yq11 to Yter. CONCLUSION: Our study enriched the karyotype-phenotype correlation of Y and 15 chromosomes translocation. It strengthened the critical roles of molecular genetic techniques in identifying the chromosomal breakpoints and regions involved. Genetic aetiology can guide early intervention in childhood and assisted reproduction in adulthood. BioMed Central 2022-02-14 /pmc/articles/PMC8842983/ /pubmed/35164811 http://dx.doi.org/10.1186/s13039-022-00581-6 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Research
Qin, Shengfang
Wang, Xueyan
Wang, Jin
Zhang, Zhuo
Chen, Ximin
Yin, Yan
Ye, Mengling
Li-Ling, Jesse
Verification of a cryptic t(Y;15) translocation in a male with an apparent 45,X karyotype
title Verification of a cryptic t(Y;15) translocation in a male with an apparent 45,X karyotype
title_full Verification of a cryptic t(Y;15) translocation in a male with an apparent 45,X karyotype
title_fullStr Verification of a cryptic t(Y;15) translocation in a male with an apparent 45,X karyotype
title_full_unstemmed Verification of a cryptic t(Y;15) translocation in a male with an apparent 45,X karyotype
title_short Verification of a cryptic t(Y;15) translocation in a male with an apparent 45,X karyotype
title_sort verification of a cryptic t(y;15) translocation in a male with an apparent 45,x karyotype
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8842983/
https://www.ncbi.nlm.nih.gov/pubmed/35164811
http://dx.doi.org/10.1186/s13039-022-00581-6
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