An azoospermic male with a novel chromosome 46, XX, der(15)t(Y; 15)(p11.3; p12)

Male individuals with a 46, XX karyotype are commonly diagnosed with 46, XX male sex reversal syndrome, one of the rarest sex chromosomal anomalies. In this case, we report a rare XX male with Y‐specific DNA sequences located near the end of chromosome 15 p‐arm, which was verified by fluorescent in...

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Detalles Bibliográficos
Autores principales: Wu, Jiebin, Hu, Guanli, Zhai, Jingfang, Han, Conghui, Li, Zhenbei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9272210/
https://www.ncbi.nlm.nih.gov/pubmed/35846903
http://dx.doi.org/10.1002/ccr3.5984
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author Wu, Jiebin
Hu, Guanli
Zhai, Jingfang
Han, Conghui
Li, Zhenbei
author_facet Wu, Jiebin
Hu, Guanli
Zhai, Jingfang
Han, Conghui
Li, Zhenbei
author_sort Wu, Jiebin
collection PubMed
description Male individuals with a 46, XX karyotype are commonly diagnosed with 46, XX male sex reversal syndrome, one of the rarest sex chromosomal anomalies. In this case, we report a rare XX male with Y‐specific DNA sequences located near the end of chromosome 15 p‐arm, which was verified by fluorescent in situ hybridization (FISH) as well as copy number variation sequencing (CNV‐seq) based on the next‐ generation sequencing method (>100 Kb). To the best of our knowledge, there have been no reports of XX male with the Yp region transferred to the terminal of chromosome 15 short arm.
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spelling pubmed-92722102022-07-15 An azoospermic male with a novel chromosome 46, XX, der(15)t(Y; 15)(p11.3; p12) Wu, Jiebin Hu, Guanli Zhai, Jingfang Han, Conghui Li, Zhenbei Clin Case Rep Case Report Male individuals with a 46, XX karyotype are commonly diagnosed with 46, XX male sex reversal syndrome, one of the rarest sex chromosomal anomalies. In this case, we report a rare XX male with Y‐specific DNA sequences located near the end of chromosome 15 p‐arm, which was verified by fluorescent in situ hybridization (FISH) as well as copy number variation sequencing (CNV‐seq) based on the next‐ generation sequencing method (>100 Kb). To the best of our knowledge, there have been no reports of XX male with the Yp region transferred to the terminal of chromosome 15 short arm. John Wiley and Sons Inc. 2022-07-11 /pmc/articles/PMC9272210/ /pubmed/35846903 http://dx.doi.org/10.1002/ccr3.5984 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Wu, Jiebin
Hu, Guanli
Zhai, Jingfang
Han, Conghui
Li, Zhenbei
An azoospermic male with a novel chromosome 46, XX, der(15)t(Y; 15)(p11.3; p12)
title An azoospermic male with a novel chromosome 46, XX, der(15)t(Y; 15)(p11.3; p12)
title_full An azoospermic male with a novel chromosome 46, XX, der(15)t(Y; 15)(p11.3; p12)
title_fullStr An azoospermic male with a novel chromosome 46, XX, der(15)t(Y; 15)(p11.3; p12)
title_full_unstemmed An azoospermic male with a novel chromosome 46, XX, der(15)t(Y; 15)(p11.3; p12)
title_short An azoospermic male with a novel chromosome 46, XX, der(15)t(Y; 15)(p11.3; p12)
title_sort azoospermic male with a novel chromosome 46, xx, der(15)t(y; 15)(p11.3; p12)
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9272210/
https://www.ncbi.nlm.nih.gov/pubmed/35846903
http://dx.doi.org/10.1002/ccr3.5984
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