Prenatal genetic analysis and differential pregnancy outcomes of two de novo cases showing mosaic isodicentric Y chromosome

He, Shiwen; Xi, Hui; Chen, Jing; Wang, Dan; Pang, Jialun; Hu, Junfeng; Liu, Qin; Jia, Zhengjun; Wang, Hua

doi:10.1186/s13039-020-0472-y

Cited by 8 publications

(5 citation statements)

References 20 publications

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“…We further screened for chromosomes with CNVs which accounted for more than 5% which yielded chromosomes 2, 3, 5, 10, 11, and Y, indicating that there may be important gene fragments affecting spermatogenesis. A large number of genes on the Y chromosome have been confirmed to cause spermatogenesis arrest, while autosomal gene abnormalities have rarely been reported (16)(17)(18). In this experiment, 132 genomic CNVs were found in the 5 autosomal chromosomes 2, 3, 5, 10, and 11, including 8 deletions and 124 repeats.…”

Section: Discussionmentioning

confidence: 74%

Analysis of copy number variations of the autosomal genome in 156 patients with azoospermia

Liu¹,

Shi²,

Zhang³

et al. 2022

Transl Androl Urol

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Background:To analyze the relationship between copy number variations (CNVs) and azoospermia by analyzing the chromosome gene copy data of 156 patients with azoospermia.Methods: A total of 156 azoospermia patients who were treated in our hospital from October 2018 to May 2021 were selected. Informed consent was signed, and semen analysis, testicular biopsy, and chromosome gene detection were carried out. CNVs were analyzed by next-generation sequencing (NGS) detection, and the obtained results were statistically analyzed.Results: Among the 156 azoospermia patients, 81 cases had sperm in the testicular puncture and 75 cases had no sperm in the testicular puncture. There was a significant difference in CNV detection between the 2 groups (P<0.05). Detailed analysis of CNVs on chromosomes 2, 3, 5, 10, and 11 yielded the following results: 132 genes were found in autosomal chromosomes with CNVs and the percentage was >5%, including 8 deletions and 124 repetitions; CNVs on chromosome 2 found 11 genes, of which 3 were deleted and 8 were duplicated; 17 genes were found in CNVs on chromosome 3, including 3 deletions and 14 duplications; 12 genes were found in CNVs on chromosome 5, of which 2 were deleted and 10 were repeated; 72 genes were found in CNVs on chromosome 10, all of which were duplicates; CNVs on chromosome 11 found 20 genes, all of which were duplicates. Conclusions:The chromosome changes caused by CNVs in structure or function may affect the component of spermatogenesis, interfere with mitosis and/or meiosis in the process of spermatogenesis, and lead to azoospermia.

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Section: Discussionmentioning

confidence: 74%

Analysis of copy number variations of the autosomal genome in 156 patients with azoospermia

Liu¹,

Shi²,

Zhang³

et al. 2022

Transl Androl Urol

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“…These results suggest that the phenotype of fetuses/neonates in whom idic(Y)/i(Y) is prenatally identified is usually that of a male with normal development, ascertained in the absence of indicators of a fetal structural anomaly. There are many cases of prenatally identified normal male phenotypes, but cases of prenatally identified normal female phenotypes with idic(Y)/i(Y) are extremely rare [ 23 , 44 , 49 , 51 , 58 – 61 ].…”

Section: Discussionmentioning

confidence: 99%

Clinical and molecular cytogenetic findings and pregnancy outcomes of fetuses with isochromosome Y

Guo

Zheng

et al. 2022

Mol Cytogenet

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Background The mosaic forms and clinical phenotypes of fetuses with isochromosome Y are difficult to predict. Therefore, we summarized the cases of nine fetuses with isochromosome Y identified in prenatal diagnosis with a combination of molecular cytogenetic techniques, providing clinical evidence for prenatal genetic counseling. Methods The prenatal diagnosis and pregnancy outcomes of nine fetuses with isochromosome Y were obtained by a retrospective analysis. Isochromosome Y was identified prenatally by different approaches, such as conventional karyotyping, chromosomal microarray analysis (CMA), quantitative fluorescent polymerase chain reaction (QF-PCR) and fluorescence in situ hybridization (FISH). Results Seven idic(Y) fetuses and two i(Y) fetuses were identified. One fetus was complete for i(Y)(p10), and the rest with 45,X had mosaic forms. A break and fusion locus was identified in Yp11.3 in one fetus, in Yq11.22 in six fetuses and in Yp10 in two fetuses. The CMA results suggested that different deletions and duplications were found on the Y chromosome. The deletion fragments ranged from 4.7 Mb to the entire Y chromosome, and the duplication fragments ranged from 10.4 to 18.0 Mb. QF-PCR analysis suggested that the AZF region was intact in one fetus, four fetuses had AZFb+c+d deletion, one fetus had AZFa+b+c+d deletion, and one fetus had AZFc+d deletion. Finally, four healthy male neonates were delivered successfully, but the parents of the remaining five fetuses, including three healthy and two unhealthy fetuses, chose to terminate their pregnancies. Conclusion The fetus and neonate phenotype of prenatally detected isochromosome Y usually is that of a normally developed male, ascertained in the absence of other indicators of a fetal structural anomaly. Our study provides clinical reference materials for risk assessment and permits better prenatally counseling and preparation of parents facing the birth of isochromosome Y fetuses.

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“…In addition, we found that the frequency of ‘both duplications and deletions of q11.223 ’ was higher compared with other regions in azoospermia patients, suggesting that q11.223 has a greater impact on sperm function, resulting in reduced spermatogenesis. q11.223 partially overlaps regions between AZFb and AZFc; q11.223 contains PRY, PRY2 and RBMY family genes, which are required for spermatogenesis (He et al., 2020). Loss of these spermatogenesis‐related genes frequently causes infertility, thus making an AZF deletion one of the leading genetic factors in SF.…”

Section: Discussionmentioning

confidence: 99%

An NGS‐based approach to identify Y‐chromosome variation in non‐obstructive azoospermia

et al. 2021

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Infertility affects approximately 50 million couples worldwide; one-half of the cases are due to a male factor. The majority of infertile males are diagnosed with spermatogenic failure (SF) (Krausz & Casamonti, 2017). Azoospermia is a main known genetic factor contributing to male infertility, which is associated with the onset of 25% male infertility. However, the identified genetic abnormalities in other semen and aetiological categories is rising (Krausz & Riera-Escamilla, 2018). Azoospermia, defined as the absence of spermatozoa in the ejaculate, is a severe state of SF, affecting approximately 7% of men worldwide (Cannarella et al., 2019). Genetic disorders, including chromosomal abnormalities, genomic instability and gene mutations, are considered the most important causes of azoospermia (Ghieh et al., 2019).Copy number variations (CNVs), a significant source of genomic instability (microdeletions and/or duplications) in the Y chromosome, contribute to the development of several pathologic variations, such as spermatogenic failure and male infertility. Owing to the high proportion of segmental duplications, the Y chromosome exhibits the most significant CNVs of all human chromosomes (Liu et al., 2021). Over the last decade, Y-chromosome microdeletions have been extensively reported (Alksere et al., 2019;Araujo et al., 2020). These microdeletions are clustered in a

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Prenatal genetic analysis and differential pregnancy outcomes of two de novo cases showing mosaic isodicentric Y chromosome

Cited by 8 publications

References 20 publications

Analysis of copy number variations of the autosomal genome in 156 patients with azoospermia

Analysis of copy number variations of the autosomal genome in 156 patients with azoospermia

Clinical and molecular cytogenetic findings and pregnancy outcomes of fetuses with isochromosome Y

An NGS‐based approach to identify Y‐chromosome variation in non‐obstructive azoospermia

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