An Infertile Azoospermic Male With 45, X T(Yp;15) Karyotype

Objective: 45, X is a very rare condition that usually results from Y/autosomal translocations or insertions. Here we present an infertile azoospermic man who had 45, X t(Yp;15) karyotype and deletion of AZF (azoospermia factor) gene region. Case report: A 35-year-old infertile azoospermic man with...
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Gespeichert in:

Autor*in:	Maryam Abiri [verfasserIn] Maryam Hassanlou [verfasserIn] Nima Narimani [verfasserIn] Marzieh Zamani [verfasserIn] Zahra Moeini [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2021

Schlagwörter:	Aneuploidy Genetic Translocation Azoospermia Sex-Determining Region Y Protein Fluorescence in situ hybridization

Übergeordnetes Werk:	In: Journal of Family and Reproductive Health - Tehran University of Medical Sciences, 2011, 15(2021), 4
Übergeordnetes Werk:	volume:15 ; year:2021 ; number:4

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc Journal toc

DOI / URN:	10.18502/jfrh.v15i4.7896

Katalog-ID:	DOAJ070291365

Internformat


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520			\|a Objective: 45, X is a very rare condition that usually results from Y/autosomal translocations or insertions. Here we present an infertile azoospermic man who had 45, X t(Yp;15) karyotype and deletion of AZF (azoospermia factor) gene region. Case report: A 35-year-old infertile azoospermic man with a typical male appearance came for infertility genetic counseling. He was infertile for more than ten years and had short height. High-resolution of metaphase chromosomes of 50 peripheral white blood cells were analyzed for karyotyping. Fluorescence in situ hybridization (FISH) analysis and Polymerase chain reaction (PCR) were done for SRY and AZF gene localization. Karyotyping and FISH analysis revealed 45, X t(Yp;15) karyotype and no mosaicism. More investigation on the Y chromosome revealed no deletion in the SRY region, but AZF a/b/c were deleted. It was revealed that Yp's subtelomeric region but not Yq was translocated to chromosome 15. Conclusion: This study shows that despite the lack of a complete Y chromosome in this person, the occurrence of secondary male traits is a result of the short arm translocation of the Y chromosome, which contains the (ex-determining region Y) SRY gene. Infertility is also due to the Y chromosomes long arm's deletion containing the AZF gene region.
650		4	\|a Aneuploidy
650		4	\|a Genetic Translocation
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allfields	10.18502/jfrh.v15i4.7896 doi (DE-627)DOAJ070291365 (DE-599)DOAJcedfdeeee40c45f1b63647b45599ec56 DE-627 ger DE-627 rakwb eng RG1-991 Maryam Abiri verfasserin aut An Infertile Azoospermic Male With 45, X T(Yp;15) Karyotype 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Objective: 45, X is a very rare condition that usually results from Y/autosomal translocations or insertions. Here we present an infertile azoospermic man who had 45, X t(Yp;15) karyotype and deletion of AZF (azoospermia factor) gene region. Case report: A 35-year-old infertile azoospermic man with a typical male appearance came for infertility genetic counseling. He was infertile for more than ten years and had short height. High-resolution of metaphase chromosomes of 50 peripheral white blood cells were analyzed for karyotyping. Fluorescence in situ hybridization (FISH) analysis and Polymerase chain reaction (PCR) were done for SRY and AZF gene localization. Karyotyping and FISH analysis revealed 45, X t(Yp;15) karyotype and no mosaicism. More investigation on the Y chromosome revealed no deletion in the SRY region, but AZF a/b/c were deleted. It was revealed that Yp's subtelomeric region but not Yq was translocated to chromosome 15. Conclusion: This study shows that despite the lack of a complete Y chromosome in this person, the occurrence of secondary male traits is a result of the short arm translocation of the Y chromosome, which contains the (ex-determining region Y) SRY gene. Infertility is also due to the Y chromosomes long arm's deletion containing the AZF gene region. Aneuploidy Genetic Translocation Azoospermia Sex-Determining Region Y Protein Fluorescence in situ hybridization Gynecology and obstetrics Maryam Hassanlou verfasserin aut Nima Narimani verfasserin aut Marzieh Zamani verfasserin aut Zahra Moeini verfasserin aut In Journal of Family and Reproductive Health Tehran University of Medical Sciences, 2011 15(2021), 4 (DE-627)634756613 (DE-600)2571523-9 17359392 nnns volume:15 year:2021 number:4 https://doi.org/10.18502/jfrh.v15i4.7896 kostenfrei https://doaj.org/article/cedfdeeee40c45f1b63647b45599ec56 kostenfrei https://jfrh.tums.ac.ir/index.php/jfrh/article/view/1758 kostenfrei https://doaj.org/toc/1735-8949 Journal toc kostenfrei https://doaj.org/toc/1735-9392 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 15 2021 4
spelling	10.18502/jfrh.v15i4.7896 doi (DE-627)DOAJ070291365 (DE-599)DOAJcedfdeeee40c45f1b63647b45599ec56 DE-627 ger DE-627 rakwb eng RG1-991 Maryam Abiri verfasserin aut An Infertile Azoospermic Male With 45, X T(Yp;15) Karyotype 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Objective: 45, X is a very rare condition that usually results from Y/autosomal translocations or insertions. Here we present an infertile azoospermic man who had 45, X t(Yp;15) karyotype and deletion of AZF (azoospermia factor) gene region. Case report: A 35-year-old infertile azoospermic man with a typical male appearance came for infertility genetic counseling. He was infertile for more than ten years and had short height. High-resolution of metaphase chromosomes of 50 peripheral white blood cells were analyzed for karyotyping. Fluorescence in situ hybridization (FISH) analysis and Polymerase chain reaction (PCR) were done for SRY and AZF gene localization. Karyotyping and FISH analysis revealed 45, X t(Yp;15) karyotype and no mosaicism. More investigation on the Y chromosome revealed no deletion in the SRY region, but AZF a/b/c were deleted. It was revealed that Yp's subtelomeric region but not Yq was translocated to chromosome 15. Conclusion: This study shows that despite the lack of a complete Y chromosome in this person, the occurrence of secondary male traits is a result of the short arm translocation of the Y chromosome, which contains the (ex-determining region Y) SRY gene. Infertility is also due to the Y chromosomes long arm's deletion containing the AZF gene region. Aneuploidy Genetic Translocation Azoospermia Sex-Determining Region Y Protein Fluorescence in situ hybridization Gynecology and obstetrics Maryam Hassanlou verfasserin aut Nima Narimani verfasserin aut Marzieh Zamani verfasserin aut Zahra Moeini verfasserin aut In Journal of Family and Reproductive Health Tehran University of Medical Sciences, 2011 15(2021), 4 (DE-627)634756613 (DE-600)2571523-9 17359392 nnns volume:15 year:2021 number:4 https://doi.org/10.18502/jfrh.v15i4.7896 kostenfrei https://doaj.org/article/cedfdeeee40c45f1b63647b45599ec56 kostenfrei https://jfrh.tums.ac.ir/index.php/jfrh/article/view/1758 kostenfrei https://doaj.org/toc/1735-8949 Journal toc kostenfrei https://doaj.org/toc/1735-9392 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 15 2021 4
allfields_unstemmed	10.18502/jfrh.v15i4.7896 doi (DE-627)DOAJ070291365 (DE-599)DOAJcedfdeeee40c45f1b63647b45599ec56 DE-627 ger DE-627 rakwb eng RG1-991 Maryam Abiri verfasserin aut An Infertile Azoospermic Male With 45, X T(Yp;15) Karyotype 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Objective: 45, X is a very rare condition that usually results from Y/autosomal translocations or insertions. Here we present an infertile azoospermic man who had 45, X t(Yp;15) karyotype and deletion of AZF (azoospermia factor) gene region. Case report: A 35-year-old infertile azoospermic man with a typical male appearance came for infertility genetic counseling. He was infertile for more than ten years and had short height. High-resolution of metaphase chromosomes of 50 peripheral white blood cells were analyzed for karyotyping. Fluorescence in situ hybridization (FISH) analysis and Polymerase chain reaction (PCR) were done for SRY and AZF gene localization. Karyotyping and FISH analysis revealed 45, X t(Yp;15) karyotype and no mosaicism. More investigation on the Y chromosome revealed no deletion in the SRY region, but AZF a/b/c were deleted. It was revealed that Yp's subtelomeric region but not Yq was translocated to chromosome 15. Conclusion: This study shows that despite the lack of a complete Y chromosome in this person, the occurrence of secondary male traits is a result of the short arm translocation of the Y chromosome, which contains the (ex-determining region Y) SRY gene. Infertility is also due to the Y chromosomes long arm's deletion containing the AZF gene region. Aneuploidy Genetic Translocation Azoospermia Sex-Determining Region Y Protein Fluorescence in situ hybridization Gynecology and obstetrics Maryam Hassanlou verfasserin aut Nima Narimani verfasserin aut Marzieh Zamani verfasserin aut Zahra Moeini verfasserin aut In Journal of Family and Reproductive Health Tehran University of Medical Sciences, 2011 15(2021), 4 (DE-627)634756613 (DE-600)2571523-9 17359392 nnns volume:15 year:2021 number:4 https://doi.org/10.18502/jfrh.v15i4.7896 kostenfrei https://doaj.org/article/cedfdeeee40c45f1b63647b45599ec56 kostenfrei https://jfrh.tums.ac.ir/index.php/jfrh/article/view/1758 kostenfrei https://doaj.org/toc/1735-8949 Journal toc kostenfrei https://doaj.org/toc/1735-9392 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 15 2021 4
allfieldsGer	10.18502/jfrh.v15i4.7896 doi (DE-627)DOAJ070291365 (DE-599)DOAJcedfdeeee40c45f1b63647b45599ec56 DE-627 ger DE-627 rakwb eng RG1-991 Maryam Abiri verfasserin aut An Infertile Azoospermic Male With 45, X T(Yp;15) Karyotype 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Objective: 45, X is a very rare condition that usually results from Y/autosomal translocations or insertions. Here we present an infertile azoospermic man who had 45, X t(Yp;15) karyotype and deletion of AZF (azoospermia factor) gene region. Case report: A 35-year-old infertile azoospermic man with a typical male appearance came for infertility genetic counseling. He was infertile for more than ten years and had short height. High-resolution of metaphase chromosomes of 50 peripheral white blood cells were analyzed for karyotyping. Fluorescence in situ hybridization (FISH) analysis and Polymerase chain reaction (PCR) were done for SRY and AZF gene localization. Karyotyping and FISH analysis revealed 45, X t(Yp;15) karyotype and no mosaicism. More investigation on the Y chromosome revealed no deletion in the SRY region, but AZF a/b/c were deleted. It was revealed that Yp's subtelomeric region but not Yq was translocated to chromosome 15. Conclusion: This study shows that despite the lack of a complete Y chromosome in this person, the occurrence of secondary male traits is a result of the short arm translocation of the Y chromosome, which contains the (ex-determining region Y) SRY gene. Infertility is also due to the Y chromosomes long arm's deletion containing the AZF gene region. Aneuploidy Genetic Translocation Azoospermia Sex-Determining Region Y Protein Fluorescence in situ hybridization Gynecology and obstetrics Maryam Hassanlou verfasserin aut Nima Narimani verfasserin aut Marzieh Zamani verfasserin aut Zahra Moeini verfasserin aut In Journal of Family and Reproductive Health Tehran University of Medical Sciences, 2011 15(2021), 4 (DE-627)634756613 (DE-600)2571523-9 17359392 nnns volume:15 year:2021 number:4 https://doi.org/10.18502/jfrh.v15i4.7896 kostenfrei https://doaj.org/article/cedfdeeee40c45f1b63647b45599ec56 kostenfrei https://jfrh.tums.ac.ir/index.php/jfrh/article/view/1758 kostenfrei https://doaj.org/toc/1735-8949 Journal toc kostenfrei https://doaj.org/toc/1735-9392 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 15 2021 4
allfieldsSound	10.18502/jfrh.v15i4.7896 doi (DE-627)DOAJ070291365 (DE-599)DOAJcedfdeeee40c45f1b63647b45599ec56 DE-627 ger DE-627 rakwb eng RG1-991 Maryam Abiri verfasserin aut An Infertile Azoospermic Male With 45, X T(Yp;15) Karyotype 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Objective: 45, X is a very rare condition that usually results from Y/autosomal translocations or insertions. Here we present an infertile azoospermic man who had 45, X t(Yp;15) karyotype and deletion of AZF (azoospermia factor) gene region. Case report: A 35-year-old infertile azoospermic man with a typical male appearance came for infertility genetic counseling. He was infertile for more than ten years and had short height. High-resolution of metaphase chromosomes of 50 peripheral white blood cells were analyzed for karyotyping. Fluorescence in situ hybridization (FISH) analysis and Polymerase chain reaction (PCR) were done for SRY and AZF gene localization. Karyotyping and FISH analysis revealed 45, X t(Yp;15) karyotype and no mosaicism. More investigation on the Y chromosome revealed no deletion in the SRY region, but AZF a/b/c were deleted. It was revealed that Yp's subtelomeric region but not Yq was translocated to chromosome 15. Conclusion: This study shows that despite the lack of a complete Y chromosome in this person, the occurrence of secondary male traits is a result of the short arm translocation of the Y chromosome, which contains the (ex-determining region Y) SRY gene. Infertility is also due to the Y chromosomes long arm's deletion containing the AZF gene region. Aneuploidy Genetic Translocation Azoospermia Sex-Determining Region Y Protein Fluorescence in situ hybridization Gynecology and obstetrics Maryam Hassanlou verfasserin aut Nima Narimani verfasserin aut Marzieh Zamani verfasserin aut Zahra Moeini verfasserin aut In Journal of Family and Reproductive Health Tehran University of Medical Sciences, 2011 15(2021), 4 (DE-627)634756613 (DE-600)2571523-9 17359392 nnns volume:15 year:2021 number:4 https://doi.org/10.18502/jfrh.v15i4.7896 kostenfrei https://doaj.org/article/cedfdeeee40c45f1b63647b45599ec56 kostenfrei https://jfrh.tums.ac.ir/index.php/jfrh/article/view/1758 kostenfrei https://doaj.org/toc/1735-8949 Journal toc kostenfrei https://doaj.org/toc/1735-9392 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_2005 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 15 2021 4
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Conclusion: This study shows that despite the lack of a complete Y chromosome in this person, the occurrence of secondary male traits is a result of the short arm translocation of the Y chromosome, which contains the (ex-determining region Y) SRY gene. 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callnumber-first	R - Medicine
author	Maryam Abiri
spellingShingle	Maryam Abiri misc RG1-991 misc Aneuploidy misc Genetic Translocation misc Azoospermia misc Sex-Determining Region Y Protein misc Fluorescence in situ hybridization misc Gynecology and obstetrics An Infertile Azoospermic Male With 45, X T(Yp;15) Karyotype
authorStr	Maryam Abiri
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topic_title	RG1-991 An Infertile Azoospermic Male With 45, X T(Yp;15) Karyotype Aneuploidy Genetic Translocation Azoospermia Sex-Determining Region Y Protein Fluorescence in situ hybridization
topic	misc RG1-991 misc Aneuploidy misc Genetic Translocation misc Azoospermia misc Sex-Determining Region Y Protein misc Fluorescence in situ hybridization misc Gynecology and obstetrics
topic_unstemmed	misc RG1-991 misc Aneuploidy misc Genetic Translocation misc Azoospermia misc Sex-Determining Region Y Protein misc Fluorescence in situ hybridization misc Gynecology and obstetrics
topic_browse	misc RG1-991 misc Aneuploidy misc Genetic Translocation misc Azoospermia misc Sex-Determining Region Y Protein misc Fluorescence in situ hybridization misc Gynecology and obstetrics
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title	An Infertile Azoospermic Male With 45, X T(Yp;15) Karyotype
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title_full	An Infertile Azoospermic Male With 45, X T(Yp;15) Karyotype
author_sort	Maryam Abiri
journal	Journal of Family and Reproductive Health
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author_browse	Maryam Abiri Maryam Hassanlou Nima Narimani Marzieh Zamani Zahra Moeini
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title_sort	infertile azoospermic male with 45, x t(yp;15) karyotype
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title_auth	An Infertile Azoospermic Male With 45, X T(Yp;15) Karyotype
abstract	Objective: 45, X is a very rare condition that usually results from Y/autosomal translocations or insertions. Here we present an infertile azoospermic man who had 45, X t(Yp;15) karyotype and deletion of AZF (azoospermia factor) gene region. Case report: A 35-year-old infertile azoospermic man with a typical male appearance came for infertility genetic counseling. He was infertile for more than ten years and had short height. High-resolution of metaphase chromosomes of 50 peripheral white blood cells were analyzed for karyotyping. Fluorescence in situ hybridization (FISH) analysis and Polymerase chain reaction (PCR) were done for SRY and AZF gene localization. Karyotyping and FISH analysis revealed 45, X t(Yp;15) karyotype and no mosaicism. More investigation on the Y chromosome revealed no deletion in the SRY region, but AZF a/b/c were deleted. It was revealed that Yp's subtelomeric region but not Yq was translocated to chromosome 15. Conclusion: This study shows that despite the lack of a complete Y chromosome in this person, the occurrence of secondary male traits is a result of the short arm translocation of the Y chromosome, which contains the (ex-determining region Y) SRY gene. Infertility is also due to the Y chromosomes long arm's deletion containing the AZF gene region.
abstractGer	Objective: 45, X is a very rare condition that usually results from Y/autosomal translocations or insertions. Here we present an infertile azoospermic man who had 45, X t(Yp;15) karyotype and deletion of AZF (azoospermia factor) gene region. Case report: A 35-year-old infertile azoospermic man with a typical male appearance came for infertility genetic counseling. He was infertile for more than ten years and had short height. High-resolution of metaphase chromosomes of 50 peripheral white blood cells were analyzed for karyotyping. Fluorescence in situ hybridization (FISH) analysis and Polymerase chain reaction (PCR) were done for SRY and AZF gene localization. Karyotyping and FISH analysis revealed 45, X t(Yp;15) karyotype and no mosaicism. More investigation on the Y chromosome revealed no deletion in the SRY region, but AZF a/b/c were deleted. It was revealed that Yp's subtelomeric region but not Yq was translocated to chromosome 15. Conclusion: This study shows that despite the lack of a complete Y chromosome in this person, the occurrence of secondary male traits is a result of the short arm translocation of the Y chromosome, which contains the (ex-determining region Y) SRY gene. Infertility is also due to the Y chromosomes long arm's deletion containing the AZF gene region.
abstract_unstemmed	Objective: 45, X is a very rare condition that usually results from Y/autosomal translocations or insertions. Here we present an infertile azoospermic man who had 45, X t(Yp;15) karyotype and deletion of AZF (azoospermia factor) gene region. Case report: A 35-year-old infertile azoospermic man with a typical male appearance came for infertility genetic counseling. He was infertile for more than ten years and had short height. High-resolution of metaphase chromosomes of 50 peripheral white blood cells were analyzed for karyotyping. Fluorescence in situ hybridization (FISH) analysis and Polymerase chain reaction (PCR) were done for SRY and AZF gene localization. Karyotyping and FISH analysis revealed 45, X t(Yp;15) karyotype and no mosaicism. More investigation on the Y chromosome revealed no deletion in the SRY region, but AZF a/b/c were deleted. It was revealed that Yp's subtelomeric region but not Yq was translocated to chromosome 15. Conclusion: This study shows that despite the lack of a complete Y chromosome in this person, the occurrence of secondary male traits is a result of the short arm translocation of the Y chromosome, which contains the (ex-determining region Y) SRY gene. Infertility is also due to the Y chromosomes long arm's deletion containing the AZF gene region.
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title_short	An Infertile Azoospermic Male With 45, X T(Yp;15) Karyotype
url	https://doi.org/10.18502/jfrh.v15i4.7896 https://doaj.org/article/cedfdeeee40c45f1b63647b45599ec56 https://jfrh.tums.ac.ir/index.php/jfrh/article/view/1758 https://doaj.org/toc/1735-8949 https://doaj.org/toc/1735-9392
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author2	Maryam Hassanlou Nima Narimani Marzieh Zamani Zahra Moeini
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up_date	2024-07-03T14:01:12.637Z
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Conclusion: This study shows that despite the lack of a complete Y chromosome in this person, the occurrence of secondary male traits is a result of the short arm translocation of the Y chromosome, which contains the (ex-determining region Y) SRY gene. 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An Infertile Azoospermic Male With 45, X T(Yp;15) Karyotype

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