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Article: 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

2022 Volume 15, Issue 1, Page(s) 3

Abstract: ... an apparent 45,X karyotype. STR analysis showed that he possessed a short arm of the Y chromosome, including ... A FISH assay of DXZ1 and DYZ3 probes showed a green signal of the X centromere and a red of the Y ... Background: A rare disease is that an individual with a non-chimeric karyotype of 45,X develops ...

Abstract	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.
Language	English
Publishing date	2022-02-14
Publishing country	England
Document type	Journal Article
ZDB-ID	2420849-8
ISSN	1755-8166
ISSN	1755-8166
DOI	10.1186/s13039-022-00581-6
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Article ; Online: RAD51AP2 is required for efficient meiotic recombination between X and Y chromosomes.

Ma, Hui / Li, Tao / Xie, Xuefeng / Jiang, Long / Ye, Jingwei / Gong, Chenjia / Jiang, Hanwei / Fan, Suixing / Zhang, Huan / Shi, Baolu / Zhang, Beibei / Jiang, Xiaohua / Li, Yang / Zhou, Jianteng / Xu, Jianze / Zhang, Xingxia / Hou, Xiaoning / Yin, Hao / Zhang, Yuanwei /

Shi, Qinghua

Science advances

2022 Volume 8, Issue 2, Page(s) eabk1789

Abstract: Faithful segregation of X and Y chromosomes requires meiotic recombination to form a crossover ... on the XY chromosomes, but not autosomes. The decreased crossover formation between X and Y chromosomes in ...

Abstract	Faithful segregation of X and Y chromosomes requires meiotic recombination to form a crossover between them in the pseudoautosomal region (PAR). Unlike autosomes that have approximately 10-fold more double-strand breaks (DSBs) than crossovers, one crossover must be formed from the one or two DSBs in PARs, implying the existence of a sex chromosome–specific recombination mechanism. Here, we found that RAD51AP2, a meiosis-specific partner of RAD51, is specifically required for the crossover formation on the XY chromosomes, but not autosomes. The decreased crossover formation between X and Y chromosomes in
Language	English
Publishing date	2022-01-12
Publishing country	United States
Document type	Journal Article
ZDB-ID	2810933-8
ISSN	2375-2548 ; 2375-2548
ISSN (online)	2375-2548
ISSN	2375-2548
DOI	10.1126/sciadv.abk1789
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Article ; Online: Unbalanced X;Y translocations carrying SRY in prenatal settings: Clinical, molecular, and cytogenetic analysis of three cases.

Liu, Xijing / Zhang, Zhu / Zhang, Xuan / Wang, Jiamin / Jiang, Jieni / Li, Lingping / Wang, He / Liu, Shanling / Hu, Ting

Prenatal diagnosis

2024

Abstract: ... of testicular tissue with a 46, XX karyotype. Three prenatal cases of unbalanced X; Y translocation carrying SRY ... inherited unbalanced X; Y translocations carrying SRY and skewed XCI presenting with normal female external ... genitalia.: Conclusion: This study reports that cases with unbalanced X; Y translocations carrying SRY ...

Abstract	Background: Generally, the translocation of SRY onto one of the X chromosomes leads to 46, XX testicular disorders of sex development, a relatively rare condition characterized by the presence of testicular tissue with a 46, XX karyotype. Three prenatal cases of unbalanced X; Y translocation carrying SRY were identified in this study. Methods: Structural variants were confirmed using single nucleotide polymorphism array and chromosomal karyotyping. X chromosome inactivation (XCI) was also analyzed. Detailed clinical features of the three cases were collected. Results: We identified two fetuses with maternal inherited unbalanced X; Y translocations carrying SRY and skewed XCI presenting with normal female external genitalia, and one fetus with de novo 46, XX (SRY+) and random XCI manifested male phenotypic external genitalia. Conclusion: This study reports that cases with unbalanced X; Y translocations carrying SRY manifested a normal female external genitalia in a prenatal setting. We speculate that the skewed XCI mediates the silence of SRY. In addition, our study emphasizes that combining clinical findings with pedigree analysis is critical for estimating the prognosis of fetuses with sex chromosome abnormalities.
Language	English
Publishing date	2024-01-10
Publishing country	England
Document type	Journal Article
ZDB-ID	82031-3
ISSN	1097-0223 ; 0197-3851
ISSN (online)	1097-0223
ISSN	0197-3851
DOI	10.1002/pd.6520
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Book ; Online: Pressure-induced color change arising from transformation between intra- and inter-band transitions in LuH$_{2\pm x}$N$_{y}$

Liu, Zhe / Zhang, Yingjie / Huang, Shenyang / Ming, Xue / Li, Qing / Pan, Chenghao / Dai, Yaomin / Zhou, Xiaoxiang / Zhu, Xiyu / Yan, Hugen / Wen, Hai-Hu

2023

Abstract: ... discussions about the underlying physics. Here, we study the optical response of LuH$_{2 \pm x}$N$_{y ... reflectivity. Our results suggest that the pressure-induced color change in LuH$_{2 \pm x}$N$_{y}$ is closely ... into the mechanism of the pressure-induced color change in LuH$_{2 \pm x}$N$_{y}$. ...

Abstract	The pressure-induced color change in the nitrogen-doped lutetium hydride has triggered extensive discussions about the underlying physics. Here, we study the optical response of LuH$_{2 \pm x}$N$_{y}$ in a broad frequency range at ambient pressure and its evolution with pressure in the visible spectral range. The broad-band optical spectra at ambient pressure reveal a Drude component associated with intra-band electronic transitions and two Lorentz components (L1 and L2) arising from inter-band electronic transitions. The application of pressure causes a spectral weight transfer from L1 to the Drude component, leading to a blue shift of the plasma edge in the reflectivity spectrum alongside a reduction of the high-frequency reflectivity. Our results suggest that the pressure-induced color change in LuH$_{2 \pm x}$N$_{y}$ is closely related to the transformation between intra- and inter-band electronic transitions, providing new insights into the mechanism of the pressure-induced color change in LuH$_{2 \pm x}$N$_{y}$. Comment: 20 pages, 4 figures. Comments are welcome and appreciated
Keywords	Condensed Matter - Superconductivity ; Condensed Matter - Materials Science
Subject code	530
Publishing date	2023-05-10
Publishing country	us
Document type	Book ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article: Differences in small noncoding RNAs profile between bull X and Y sperm.

Zhou, Hao / Liu, Jiajia / Sun, Wei / Ding, Rui / Li, Xihe / Shangguan, Aishao / Zhou, Yang / Worku, Tesfaye / Hao, Xingjie / Khan, Faheem Ahmed / Yang, Liguo / Zhang, Shujun

PeerJ

2020 Volume 8, Page(s) e9822

Abstract: ... fragments (tsRNAs), between X and Y sperm of mammals remain unclear. Here, we employed high-throughput ... sequencing to systematically compare the sncRNA profiles of X and Y sperm from bulls ( ...

Abstract	The differences in small noncoding RNAs (sncRNAs), including miRNAs, piRNAs, and tRNA-derived fragments (tsRNAs), between X and Y sperm of mammals remain unclear. Here, we employed high-throughput sequencing to systematically compare the sncRNA profiles of X and Y sperm from bulls (
Language	English
Publishing date	2020-09-18
Publishing country	United States
Document type	Journal Article
ZDB-ID	2703241-3
ISSN	2167-8359
ISSN	2167-8359
DOI	10.7717/peerj.9822
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Article: Erratum: Zhao, J.; Shen, X.; Cao, X.; He, H.; Han, S.; Chen, Y.; Cui, C.; Wei, Y.; Wang, Y.; Li, D.; Zhu, Q.; Yin, H. HDAC4 Regulates the Proliferation, Differentiation and Apoptosis of Chicken Skeletal Muscle Satellite Cells.

Zhao, Jing / Shen, Xiaoxu / Cao, Xinao / He, Haorong / Han, Shunshun / Chen, Yuqi / Cui, Can / Wei, Yuanhang / Wang, Yan / Li, Diyan / Zhu, Qing / Yin, Huadong

Animals : an open access journal from MDPI

2020 Volume 10, Issue 12

Abstract: The authors wish to make the following corrections to their paper [ ... ]. ...

Abstract	The authors wish to make the following corrections to their paper [...].
Language	English
Publishing date	2020-12-07
Publishing country	Switzerland
Document type	Published Erratum
ISSN	2076-2615
ISSN	2076-2615
DOI	10.3390/ani10122322
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Article ; Online: Combined piezoelectricity, valley splitting and Dzyaloshinskii-Moriya interaction in Janus GdXY (X, Y = Cl, Br, I) magnetic semiconductors.

Zhang, Dehe / Li, Aolin / Zhang, Bei / Zhou, Wenzhe / Duan, Haiming / Ouyang, Fangping

Physical chemistry chemical physics : PCCP

2023 Volume 25, Issue 12, Page(s) 8600–8607

Abstract: ... first-principles calculations, it is predicted that monolayer 2H-GdXY (X, Y = Cl, Br, I) will combine ...

Abstract	Janus materials, as a family of multifunctional materials with broken mirror symmetry, have played a great role in piezoelectric, valley-related, and Rashba spin-orbit coupling (SOC) applications. Using first-principles calculations, it is predicted that monolayer 2H-GdXY (X, Y = Cl, Br, I) will combine giant piezoelectricity, intrinsic valley splitting and a strong Dzyaloshinskii-Moriya interaction (DMI), resulting from the intrinsic electric polarization, spontaneous spin polarization and strong spin-orbit coupling. Opposite Berry curvatures and unequal Hall conductivities at the K- and K'-valleys of monolayer GdXY are promising for storing information through the anomalous valley Hall effect (AVHE). Through construction of the spin Hamiltonian and micromagnetic model, we obtained the primary magnetic parameters of monolayer GdXY as a function of the biaxial strain. Due to the dimensionless parameter
Language	English
Publishing date	2023-03-22
Publishing country	England
Document type	Journal Article
ZDB-ID	1476244-4
ISSN	1463-9084 ; 1463-9076
ISSN (online)	1463-9084
ISSN	1463-9076
DOI	10.1039/d2cp04482j
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Article ; Online: High-level mosaicism for 45,X in 45,X/46,X,idic(Y)(q11.2) at amniocentesis in a pregnancy with a favorable outcome and postnatal progressive decrease of the 45,X cell line.

Chen, Chih-Ping / Chern, Schu-Rern / Chen, Shin-Wen / Wu, Fang-Tzu / Lee, Chen-Chi / Chen, Li-Feng / Chen, Yun-Yi / Wang, Wayseen

Taiwanese journal of obstetrics & gynecology

2022 Volume 61, Issue 3, Page(s) 528–531

Abstract: Objective: We present prenatal diagnosis of high-level mosaicism for 45,X in 45,X/46,X,idic(Y)(q11 ... 46,X,idic(Y)(q11.2)[4]. Prenatal ultrasound was unremarkable, and the fetus had normal male external ... revealed a karyotype of 45,X[24]/46,X,idic(Y)(q11.2)[3]. Simultaneous interphase fluorescence in situ ...

Abstract	Objective: We present prenatal diagnosis of high-level mosaicism for 45,X in 45,X/46,X,idic(Y)(q11.2) at amniocentesis in a pregnancy with a favorable outcome and postnatal progressive decrease of the 45,X cell line. Case report: A 36-year-old, gravida 4, para 3, woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 45,X[22]/46,X,idic(Y)(q11.2)[4]. Prenatal ultrasound was unremarkable, and the fetus had normal male external genitalia. Repeat amniocentesis was performed at 20 weeks of gestation, and the second amniocentesis revealed a karyotype of 45,X[24]/46,X,idic(Y)(q11.2)[3]. Simultaneous interphase fluorescence in situ hybridization (FISH) analysis on uncultured amniocytes revealed that 60% (62/103 cells) were Y-deleted cells. After genetic counseling, the parents decided to continue the pregnancy, and a 3020-g male baby was delivered with a body length of 52 cm, normal male genital organs and no phenotypic abnormalities. The karyotypes of cord blood, umbilical cord and placenta were 45,X[20]/46,X,idic(Y)(q11.2)[20], 45,X[31]/46,X,idic(Y)(q11.2)[9] and 45,X[40], respectively. At age one month, FISH analysis on urinary cells and buccal mucosal cells revealed 11.5% (7/61 cells) and 13.6% (16/118 cells), respectively for mosaicism for the Y-deleted cells. At age five month, the karyotype of peripheral blood was 45,X[9]/46,X,idic(Y)(q11.2)[31]. FISH analysis on buccal mucosal cells showed no abnormal Y-deleted cell (0/101 cells). At age 11 month, the karyotype of peripheral blood was 45,X[5]/46,X,idic(Y)(q11.2)[35]. FISH analysis on 102 buccal mucosal cells showed no abnormal signals. The infant was doing well with normal physical and psychomotor development. Conclusion: High-level mosaicism for 45,X in 45,X/46,X,idic(Y)(q11.2) at amniocentesis can be associated with a favorable outcome and progressive decrease of the 45,X cell line.
MeSH term(s)	Amniocentesis ; Cell Line ; Comparative Genomic Hybridization ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Karyotype ; Male ; Mosaicism ; Pregnancy ; Trisomy
Language	English
Publishing date	2022-04-27
Publishing country	China (Republic : 1949- )
Document type	Case Reports
ZDB-ID	2202946-1
ISSN	1875-6263 ; 1875-6263
ISSN (online)	1875-6263
ISSN	1875-6263
DOI	10.1016/j.tjog.2022.03.024
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Article ; Online: 45,X/46,X,r(Y)/46,X,dic r(Y) karyotype in an azoospermic male: a case report.

Dong, Y / Yu, X W / Wang, R X / Li, L L / Jiang, Y T / Liu, R Z

Cytogenetic and genome research

2014 Volume 142, Issue 2, Page(s) 140–144

Abstract: ... 46,X,r(Y)/46,X,dic r(Y) in an azoospermic man. However, the reason for this patient's azoospermia is ... not an AZF microdeletion but might be the abnormal structure of the r(Y) chromosome, the 45,X ... Y chromosome abnormalities are frequently associated with male infertility. Men with ring Y ...

Abstract	Y chromosome abnormalities are frequently associated with male infertility. Men with ring Y chromosomes can present with sexual infantilism, ambiguous genitalia, hypospadias, or azoospermia. AZF microdeletions can result in spermatogenic defects in such patients. Here, we report an unusual karyotype of 45,X/46,X,r(Y)/46,X,dic r(Y) in an azoospermic man. However, the reason for this patient's azoospermia is not an AZF microdeletion but might be the abnormal structure of the r(Y) chromosome, the 45,X cell line, mosaicism of the 3 cell lines, or another unknown cause. In such cases, if the couple wishes to reproduce, cytogenetic, molecular and fluorescent in situ hybridization evaluations should be performed, and preimplantation genetic diagnosis should be used together with assisted reproductive technology.
MeSH term(s)	Adult ; Azoospermia/genetics ; Chromosome Banding ; Chromosomes, Human, Y/genetics ; Humans ; Karyotype ; Male ; Ring Chromosomes ; Semen ; Semen Analysis ; Sex Chromosome Aberrations ; Spermatogenesis/genetics
Language	English
Publishing date	2014
Publishing country	Switzerland
Document type	Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2087824-2
ISSN	1424-859X ; 1424-8581
ISSN (online)	1424-859X
ISSN	1424-8581
DOI	10.1159/000356467
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Zs.A 512: Show issues

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Article ; Online: Differential Membrane Protein Profile in Bovine X- and Y-Sperm.

Shen, Dan / Zhou, Chenghao / Cao, Mingyue / Cai, Wentao / Yin, Hongwei / Jiang, Li / Zhang, Shengli

Journal of proteome research

2021 Volume 20, Issue 6, Page(s) 3031–3042

Abstract: ... of X- and Y-sperm and to screen the sex-specific candidate antigen proteins for sexed semen production ... by using high-purity X- and Y-sperm from 20 Holstein bulls and applying the label-free proteomic technique ... regulated, respectively. In the X- and the Y-sperm group, 151 and 88 proteins were specifically expressed ...

Abstract	The aim of this study was to understand the molecular mechanisms behind the biological differences of X- and Y-sperm and to screen the sex-specific candidate antigen proteins for sexed semen production. To this end, we investigated differential expression of total membrane proteins of the two sperm types by using high-purity X- and Y-sperm from 20 Holstein bulls and applying the label-free proteomic technique; 1521 proteins were identified. In the X-sperm group, 8 and 23 proteins were significantly up- and down-regulated, respectively. In the X- and the Y-sperm group, 151 and 88 proteins were specifically expressed, respectively. These were overexpressed in the dynamic changes of the actin cytoskeleton, and cell senescence/apoptosis induced by the immune response, and could result in differences in the state, size, and immune sensitivity of the X-/Y-sperm membranes. The prediction of transmembrane structure, subcellular localization, and Western blotting validation results showed that the CLRN3 and SCAMP1 proteins were cell surface specific antigens of X- and Y-sperm, respectively. Our findings help explain the molecular mechanism behind the biological differences of X-/Y-sperm and lay the foundation for application of immunological methods to produce sex-sorted semen and control livestock sex. Data are available via ProteomeXchange with identifier PXD019435.
MeSH term(s)	Animals ; Cattle ; Female ; Male ; Membrane Proteins/genetics ; Proteomics ; Sex Preselection ; Spermatozoa ; X Chromosome ; Y Chromosome
Chemical Substances	Membrane Proteins
Language	English
Publishing date	2021-05-19
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2078618-9
ISSN	1535-3907 ; 1535-3893
ISSN (online)	1535-3907
ISSN	1535-3893
DOI	10.1021/acs.jproteome.0c00358
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