Mitotic and meiotic behaviour of a naturally transmitted ring Y chromosome: reproductive risk evaluation

Arnedo, Núria; Nogués, Carme; Bosch, Mercè; Templado, C.

doi:10.1093/humrep/deh598

Cited by 37 publications

(40 citation statements)

References 38 publications

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“…They may also form in other ways such as when telomeres join without chromosomal loss, by fusion of subtelomeric regions, or by the union of a broken chromosome with the opposite arm telomere. Ring Y chromosomes are relatively common although they are rarely inherited from father to son (3). A second monosomic cell line, such as 45,X, is often present because of meiotic instability of the ring (3).…”

Section: Discussionmentioning

confidence: 99%

“…At his initial examination testicular volume was 1.5mL bilaterally, and later recorded as 2mL each at 8 years-of-age, at which time his serum testosterone was less than 20ng/dL. His peripheral blood karyotype was mos 45,X [3]/ 46,X,r(?Y) [47]. Confirmation of the ring Y chromosome was accomplished using PCR and Southern blot analysis ( Table 2).…”

Section: Prepubertal Childrenmentioning

confidence: 99%

“…To date males with bilaterally descended testes and a 45,X/46,XY karyotype have been described largely at a case report level (2)(3)(4)(5)(6)(7)(8)(9)(10)(11). The following series of mos 45,X/46,XY patients with bilateral scrotal testes serves to challenge conventional thinking about the frequency and phenotypic features of this interesting subgroup of mos 45,X/46/XY subjects.…”

Section: Introductionmentioning

confidence: 98%

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Phenotypic spectrum of 45,X/46,XY males with a ring Y chromosome and bilaterally descended testes

Layman

Tho

Clark

et al. 2009

Fertility and Sterility

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MAIN OUTCOME MEASURES-Clinical phenotype vs. genotypeRESULTS-Both prepubertal males had short stature and low testosterone. All three adults had normal puberty and normal testosterone levels. Two of the adults (one with short stature and one with normal stature) had elevated gonadotropins and azoospermia. The third adult had normal stature, severe oligospermia, normal gonadotropins, and normal serum testosterone. CONCLUSIONS-The phenotypic spectrum of males with a 45,X/46,X(r)Y karyotype and bilaterally descended testes varies greatly from males with short stature and spermatogenic failure to males without short stature and less severely affected spermatogenesis. This broad spectrum of phenotypic findings needs to be taken into account when the clinical geneticist encounters a prenatal diagnosis of a 45,X/46,X(r)Y karyotype. This information will also be helpful for pediatric and reproductive endocrinologists in counseling males with bilaterally descended testes and a 45,X/46,X(r)Y karyotype.Address reprint requests to Lawrence C. Layman, M.D. Section

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Section: Discussionmentioning

confidence: 99%

Section: Prepubertal Childrenmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 98%

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Phenotypic spectrum of 45,X/46,XY males with a ring Y chromosome and bilaterally descended testes

Layman

Tho

Clark

et al. 2009

Fertility and Sterility

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“…13 This MGD patient was able to conceive with his wife; they had a son with Klinefelter syndrome and a karyotype of 47,XX,r(Y)/46,XX. Bofinger and colleagues described successful conception of offspring with use of ICSI in the setting of 45,X/46,X(r)Y karyotypes.…”

Section: Introductionmentioning

confidence: 95%

45,X/46,XY mixed gonadal dysgenesis: A case of successful sperm extraction

Flannigan

Chow

et al. 2014

CUAJ

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Infertility is common among couples, about one third of cases are the result of solely male factors, and rarely abnormalities of genetic karyotypes are the root cause. Individuals with a 45X,/46,XY mosaiscism are rare in the literature and very few have fertile potential. We discuss a case of a 27-year-old male with known mixed gonadal dysgenesis, 50:50 split mosaiscism of 45,X/46,XY, presenting for evaluation of 1.5 year history of infertility. He demonstrated low volume non-obstructive azoospermia. Upon testicular biopsy, spermatozoa were extracted. These sperm were subjected to aneuploidy studies demonstrating 95.95% euploidy. The sperm were further assessed and placed in cryopreservation after being deemed sufficient for potential intracytoplasmic sperm injection. This is a unique case of viable sperm in a man with mixed gonadal dysgenesis, 45,X/46,XY mosaiscism.

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“…Ring kromozom oluşumunda majör mekanizma, kromozomun her iki kolunda ortaya çıkan ve genetik materyal kaybına neden olan terminal kırıklar sonucu oluşan yapışkan uçların füzyondur.Çoğunlukla de novo görülmekle birlikte, tüm ring kromozomların yalnızca %1 veya daha azı ebeveynlerden kalıtılarak ortaya çıkmaktadır. 4,5 Müşerref…”

Section: Discussionunclassified

A Rare Combination of Mosaic Ring Y Chromosome and Shox Gene Deletion in an Infertile Male

Basdemirci¹,

Yıldırım²,

Zamani³

2018

Turkiye Klinikleri J Med Sci

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nfertilite cinsel olarak aktif çiftlerin herhangi bir korunma yöntemi uygulamaksızın bir yıl içinde gebelik elde edememesi durumu olarak tanımlanır. Tüm dünya genelinde üreme çağındaki çiftlerin yaklaşık %10-15'ini etkileyen infertilitede, vakaların yaklaşık yarısında bozulmuş spermatogenezle ilişkili erkek faktörler rol oynar. Erkek üremesinde bir takım dış faktörler etkili olsa da genetik faktörlerin önemli role sahip olduğu bilinmektedir. Turkiye Klinikleri J Med Sci 2018;38(2):195-9

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Mitotic and meiotic behaviour of a naturally transmitted ring Y chromosome: reproductive risk evaluation

Cited by 37 publications

References 38 publications

Phenotypic spectrum of 45,X/46,XY males with a ring Y chromosome and bilaterally descended testes

Phenotypic spectrum of 45,X/46,XY males with a ring Y chromosome and bilaterally descended testes

45,X/46,XY mixed gonadal dysgenesis: A case of successful sperm extraction

A Rare Combination of Mosaic Ring Y Chromosome and Shox Gene Deletion in an Infertile Male

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