An azoospermic male with a novel chromosome 46, XX, der(15)t(Y; 15)(p11.3; p12)
Abstract 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 fluore...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2022-07-01
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| Series: | Clinical Case Reports |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/ccr3.5984 |
| _version_ | 1818041358302052352 |
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| author | Jiebin Wu Guanli Hu Jingfang Zhai Conghui Han Zhenbei Li |
| author_facet | Jiebin Wu Guanli Hu Jingfang Zhai Conghui Han Zhenbei Li |
| author_sort | Jiebin Wu |
| collection | DOAJ |
| description | Abstract 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. |
| first_indexed | 2024-12-10T08:29:09Z |
| format | Article |
| id | doaj.art-7c4c9d198f554f5cbd599cd5ea2631bd |
| institution | Directory Open Access Journal |
| issn | 2050-0904 |
| language | English |
| last_indexed | 2024-12-10T08:29:09Z |
| publishDate | 2022-07-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj.art-7c4c9d198f554f5cbd599cd5ea2631bd2022-12-22T01:56:09ZengWileyClinical Case Reports2050-09042022-07-01107n/an/a10.1002/ccr3.5984An azoospermic male with a novel chromosome 46, XX, der(15)t(Y; 15)(p11.3; p12)Jiebin Wu0Guanli Hu1Jingfang Zhai2Conghui Han3Zhenbei Li4Department of Prenatal Diagnosis Medical Center Xuzhou Central Hospital, Xuzhou Clinical Schools of Nanjing Medical University and Xuzhou Medical University Xuzhou Jiangsu ChinaDepartment of Prenatal Diagnosis Medical Center Xuzhou Central Hospital, Xuzhou Clinical Schools of Nanjing Medical University and Xuzhou Medical University Xuzhou Jiangsu ChinaDepartment of Prenatal Diagnosis Medical Center Xuzhou Central Hospital, Xuzhou Clinical Schools of Nanjing Medical University and Xuzhou Medical University Xuzhou Jiangsu ChinaDepartment of Urology Xuzhou Central Hospital, Xuzhou Clinical Schools of Nanjing Medical University and Xuzhou Medical University Xuzhou Jiangsu ChinaDepartment of Urology Xuzhou Central Hospital, Xuzhou Clinical Schools of Nanjing Medical University and Xuzhou Medical University Xuzhou Jiangsu ChinaAbstract 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.https://doi.org/10.1002/ccr3.598446, XX maleazoospermiacytogeneticsmolecular geneticspositive SRY gene |
| spellingShingle | Jiebin Wu Guanli Hu Jingfang Zhai Conghui Han Zhenbei Li An azoospermic male with a novel chromosome 46, XX, der(15)t(Y; 15)(p11.3; p12) Clinical Case Reports 46, XX male azoospermia cytogenetics molecular genetics positive SRY gene |
| 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 | 46, XX male azoospermia cytogenetics molecular genetics positive SRY gene |
| url | https://doi.org/10.1002/ccr3.5984 |
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