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 …

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 …

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 …

[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 …

[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, …

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

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

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 …

Autism risk in offspring can be assessed through quantification of male sperm mosaicism

MW Breuss, D Antaki, RD George, M Kleiber… - Nature Medicine, 2020 - nature.com
… 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

[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 …