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 …

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 …

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 …

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

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

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 …

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, …

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, …

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 …

[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 …