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…
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 …
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 …
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
… 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 …
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. …
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), male … gonadal development; 2) 3 males, apparently
normal at birth, developed late onset abnormalities such as dysgenetic testes leading to infertility…
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. …
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 …
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 …
… 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 …
or as adults with infertility, gonadal … as a male with short stature and gonadal failure, quite …