Assisted reproductive treatment applications in men with normal phenotype but 45, X/46, XY mosaic karyotype: clinical and genetic perspectives
S Kilic, B Yukse, N Tasdemir, M Dogan… - Taiwanese Journal of …, 2010 - Elsevier
… mosaicism is well recognized in females with gonadal dysgenesis, males with mixed gonadal
dysgenesis, male … of phenotypically normal men with idiopathic infertility and an apparently …
dysgenesis, male … of phenotypically normal men with idiopathic infertility and an apparently …
Cytogenetics of infertile men
E Van Assche, M Bonduelle, H Tournaye… - Human …, 1996 - academic.oup.com
… male infertility in 4.3-40.4% of patients. Recently, fluorescent in-situ hybridization studies on
spermatozoa from infertile men were … We investigated cytogenetically 694 infertile men with …
spermatozoa from infertile men were … We investigated cytogenetically 694 infertile men with …
Mosaicism for 45, X cell line may accentuate the severity of spermatogenic defects in men with AZFc deletion
J Jaruzelska, A Korcz, A Wojda… - Journal of Medical …, 2001 - jmg.bmj.com
… infertile men may be caused by coexistence of the AZF deletion with a chromosomal aberration,
we found a mosaic … , which may to a varying degree affect the gonadal development and …
we found a mosaic … , which may to a varying degree affect the gonadal development and …
[HTML][HTML] How common is germinal mosaicism that leads to premeiotic aneuploidy in the female?
JDA Delhanty, SB SenGupta, H Ghevaria - Journal of assisted …, 2019 - Springer
… -depth analysis of events during male and female meiosis and … suggested the term germinal
or germline mosaicism [5, 15]. It is … to be of importance in fertility is the recombination rate at …
or germline mosaicism [5, 15]. It is … to be of importance in fertility is the recombination rate at …
[HTML][HTML] Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort
Q Zhang, X Yang, J Wang, J Li, Q Wu, Y Wen… - Genetics in …, 2019 - nature.com
… , especially in male patients. MECP2-Arg106 might be a … The high rate of germline mosaicism
observed in this study led … although almost all male mice of RTT model strains are infertile, …
observed in this study led … although almost all male mice of RTT model strains are infertile, …
45, X/46, XY mosaicism and normozoospermia in a patient with male phenotype
S Ketheeswaran, B Alsbjerg… - Case reports in …, 2019 - Wiley Online Library
… females with gonadal dysgenesis and … infertile male with normal semen analysis, normal
hormonal levels, and normal height who, however, showed a low-grade 45,X/46,XY mosaicism …
hormonal levels, and normal height who, however, showed a low-grade 45,X/46,XY mosaicism …
Mosaic loss of the Y chromosome and men's health
M Fukami, M Miyado - Reproductive Medicine and Biology, 2022 - Wiley Online Library
… Such mosaicism can lead to mixed gonadal dysgenesis, one of … men, infertility in
reproductive-aged men, and developmental defects in children. Unresolved issues regarding mosaic …
reproductive-aged men, and developmental defects in children. Unresolved issues regarding mosaic …
Distinctive pattern of expression of spermatogenic molecular markers in testes of azoospermic men with non-mosaic Klinefelter syndrome
SE Kleiman, L Yogev, O Lehavi, H Yavetz… - Journal of Assisted …, 2016 - Springer
… Of interest are the genes found in the azoospermic factor regions (AZF) at the Y-chromosome
that tend to be deleted in infertile men. RNA binding motif (RBM) and deleted in …
that tend to be deleted in infertile men. RNA binding motif (RBM) and deleted in …
Autism risk in offspring can be assessed through quantification of male sperm mosaicism
… The recurrence risk for autism spectrum disorders is substantial, leading many families to
decline future pregnancies, but the potential impact of assessing parental gonadal mosaicism …
decline future pregnancies, but the potential impact of assessing parental gonadal mosaicism …
[HTML][HTML] Profiling the male germline genome to unravel its reproductive potential
S Cheung, P Xie, Z Rosenwaks, GD Palermo - Fertility and sterility, 2023 - Elsevier
… To further evaluate the role of the male gamete in clinical outcome, we categorized the
infertile couples according to the reasons for reproductive failure. Couples in the first subgroup …
infertile couples according to the reasons for reproductive failure. Couples in the first subgroup …