Paternal somatic and germ-line mosaicism for a sex-determining region on Y (SRY) missense mutation leading to recurrent 46, XY sex reversal
RS Hines, SPT Tho, YY Zhang, L Plouffe Jr… - Fertility and sterility, 1997 - Elsevier
… nal mosaicism for Y-linked mutations that lead to oligospermia or azoospermia in otherwise
normal male offspring of mosaic fathers. Continued comparative studies of male genomic …
normal male offspring of mosaic fathers. Continued comparative studies of male genomic …
Mosaicism in men in hemophilia: is it exceptional? Impact on genetic counselling
C Costa, AM Frances, S Letourneau… - Journal of Thrombosis …, 2009 - jthjournal.org
… , produce a germline and/or somatic mosaic. In hemophilia, somatic mosaicism has been …
undergoing medically assisted procreation because of the infertility of her partner, a genetic …
undergoing medically assisted procreation because of the infertility of her partner, a genetic …
Studies on sperm chromosomes in patients with severe male factor infertility undergoing assisted reproductive technology treatment
J Levron, A Aviram-Goldring, I Madgar, G Raviv… - Molecular and Cellular …, 2001 - Elsevier
… to infertility may occur in younger patients. The vast majority of the infertile male population
… It appears that like women these men, that demonstrate diminished gonadal reserve, are at …
… It appears that like women these men, that demonstrate diminished gonadal reserve, are at …
Clinical aspects of 49 infertile males with 45, X/46, XY mosaicism karyotype: a case series
F Mohammadpour Lashkari, MA Sadighi Gilani… - Andrologia, 2018 - Wiley Online Library
… et al. investigated 78 infertile men with primary infertility. In … XY mosaicism presents wide
range of phenotypes and can affect hormonal balance, gonadal development, growth and fertility…
range of phenotypes and can affect hormonal balance, gonadal development, growth and fertility…
State of the art for genetic testing of infertile men
RI McLachlan, MK O'Bryan - The Journal of Clinical …, 2010 - academic.oup.com
… The clinician has a duty to inform the couple, where possible, of the reason for the male’s …
of the infertile male. The great progress in understanding the genetic regulation of gonadal …
of the infertile male. The great progress in understanding the genetic regulation of gonadal …
Genetic diagnostics of male infertility in clinical practice
R Flannigan, PN Schlegel - Best Practice & Research Clinical Obstetrics & …, 2017 - Elsevier
… male infertility, azoospermia. In this chapter, we explore known genetic causes of male infertility
such as Klinefelter syndrome, XYY men, … inversions, mixed gonadal dysgenesis, x-linked …
such as Klinefelter syndrome, XYY men, … inversions, mixed gonadal dysgenesis, x-linked …
Male infertility: pathogenesis and clinical diagnosis
C Krausz - Best practice & research Clinical endocrinology & …, 2011 - Elsevier
… termed “idiopathic infertility”. A part from few exceptions, the only available therapy for male
factor infertility is assisted reproduction which allows conception also in severe male factor, …
factor infertility is assisted reproduction which allows conception also in severe male factor, …
Idiopathic infertility as a feature of genome instability
A Puzuka, B Alksere, L Gailite, J Erenpreiss - Life, 2021 - mdpi.com
… of genetic factors in male infertility is linked to postnatal alterations that can occur either in
all tissues or only in reproductive organs and spermatozoa (gonadal mosaicism). Separately, …
all tissues or only in reproductive organs and spermatozoa (gonadal mosaicism). Separately, …
Inherited aneuploidy: germline mosaicism
JDA Delhanty - Cytogenetic and genome research, 2011 - karger.com
… However, since the oocytes were obtained from relatively young patients with fertility problems…
in female fetal gonads is that the same is not true for the male counterparts. Testicular cell …
in female fetal gonads is that the same is not true for the male counterparts. Testicular cell …
[HTML][HTML] Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism
JS Acierno, C Xu, GE Papadakis, NJ Niederländer… - Genetics in …, 2020 - Elsevier
… a larger role for postzygotic mosaicism relative to gonadal mosaicism. The presence of …
can restore fertility. In this instance, genetic testing of the sperm of male mosaic patients would …
can restore fertility. In this instance, genetic testing of the sperm of male mosaic patients would …