The First Case Report of 47, XXY/46, XX/46, XY Mosaic Klinefelter Syndrome Patient With Mixed Connective Tissue Disorder

A Kalayci Yigin, MT Alay, S Uğurlu… - … Journal of Men's …, 2023 - journals.sagepub.com
… experience infertility, the primary clinical manifestation of KS that signals a referral for medical
testing (Eberl et al., 2005). However, the mosaic form of KS is not characterized by infertility

[HTML][HTML] Increased achondroplasia mutation frequency with advanced age and evidence for G1138A mosaicism in human testis biopsies

MD Giudicelli, V Serazin, CR Le Sciellour, M Albert… - Fertility and sterility, 2008 - Elsevier
mosaic in three of these subjects. Whether such a mosaicism is a common feature or not to
aging in men … Although such a gonadal mosaicism already has been hypothesized to explain …

Meiotic behaviour and sperm aneuploidy in an infertile man with a mosaic 45, X/46, XY karyotype

H Ren, V Chow, S Ma - Reproductive Biomedicine Online, 2015 - Elsevier
gonadal dysgenesis (MGD). Adults with MGD may vary in degree of … men, this study suggests
that infertile men with abnormal sex chromosome karyotypes and high levels of mosaicism

A SRY-HMG box frame shift mutation inherited from a mosaic father with a mild form of testicular dysgenesis syndrome in Turner syndrome patient

M Shahid, VS Dhillon, HS Khalil, S Haque, S Batra… - BMC medical …, 2010 - Springer
… the short stature and primary infertility, and the mutated SRY protein … It is clear from the
pedigree as well that gonadal mosaicism … The development of normal male sex determination and …

Clinical implications of Y chromosome microdeletions among infertile men

N Punjani, C Kang, PN Schlegel - Best Practice & Research Clinical …, 2020 - Elsevier
… This review provides a brief review of male infertility and the … microdeletions in male infertility
and other systemic disease. … in male fertility followed by various etiologies of male infertility. …

45, X/46, XY mosaicism: report of 27 cases

L Telvi, A Lebbar, O Del Pino, JP Barbet… - Pediatrics, 1999 - publications.aap.org
… , mixed gonadal dysgenesis (MGD), malegonadal development; 2) 3 males, apparently
normal at birth, developed late onset abnormalities such as dysgenetic testes leading to infertility

The genetic basis of male infertility

S Bhasin, K Ma, I Sinha, M Limbo, WE Taylor… - … and metabolism clinics …, 1998 - Elsevier
… to male offspring. This raises issues of informed consent and ethical concerns. Substantial
prevalence of Y deletions in infertile men … rationale for screening of infertile men prior to ICSI. …

[HTML][HTML] … genetic testing does not solve the mystery: a rare case of preimplantation genetic diagnosis for campomelic dysplasia in the setting of parental mosaicism

B Patel, JLB Byrne, A Phillips, JM Hotaling… - Fertility and …, 2018 - Elsevier
germline mosaicism for campomelic dysplasia was found to be a somatic mosaic with a
germline … The result for the husband, who underwent the same test, showed normal male

Sex chromosome mosaicism in males carrying Y chromosome long arm deletions

JP Siffroi, C Le Bourhis, C Krausz… - Human …, 2000 - academic.oup.com
… We studied blood samples from 14 infertile men carrying a Yq microdeletion as revealed by
… associated with infertility. The presence of 45,XO cells particularly in the germ line may be a …

Contemporary genetics-based diagnostics of male infertility

A Ferlin, S Dipresa, A Delbarba… - Expert review of …, 2019 - Taylor & Francis
Men with 45,X/46,XY Mixed gonadal dysgenesis may present at birth with ambiguous genitalia
or as adults with infertility, gonadal … as a male with short stature and gonadal failure, quite …