Chromosome 17 translocation affects sperm morphology: Two case studies and literature review

Huang, Shan; Huang, Yingting; Li, Shan; He, Yu

doi:10.1111/and.14620

Cited by 2 publications

(4 citation statements)

References 105 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…[36] Sperm motility deficiencies are at risk due to chromosomal translocation. [8] Sperm motility and progressive motility were considerably lower in RCT carriers than in control groups. [37] However, RCT carriers and the control group did not differ in terms of progressive sperm motility and motility grade Paoloni-Giacobino et al [32] N/A = not applicable, NPS-ASP = the number of progressive spermatozoa retrieved after sperm preparation, PGD = preimplantation genetic diagnosis.…”

Section: Discussionmentioning

confidence: 78%

“…[36] Sperm motility deficiencies are at risk due to chromosomal translocation. [8] Sperm motility and progressive motility were considerably lower in RCT carriers than in control groups. [37] However, RCT carriers and the control group did not differ in terms of progressive sperm motility and motility grade D, according to Pastuszek et al’s [38] research.…”

Section: Discussionmentioning

confidence: 99%

“…[4–6] Reciprocal chromosomal translocation (RCT) is an important chromosome structural abnormality and has been reported to affect sperm number, morphology, and motility. [7,8]…”

Section: Introductionmentioning

confidence: 99%

“…[4][5][6] Reciprocal chromosomal translocation (RCT) is an important chromosome structural abnormality and has been reported to affect sperm number, morphology, and motility. [7,8] AZS is the commonest causes of male-related infertility [9] and often diagnosed due to reduced sperm motility. [10] AZS patients account for 18% of infertile men.…”

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Association between chromosome 6p21 translocation and asthenozoospermia: A retrospective, observational study

et al. 2023

View full text Add to dashboard Cite

Asthenozoospermia (AZS) is the commonest cause of male-related infertility. The patients with AZS easily exhibit infertility, with their wives having spontaneous miscarriages or seeking assisted reproductive treatment. Reciprocal chromosomal translocation (RCT) is an important chromosome structural abnormality and has been reported to affect sperm motility. Genetic counseling for male RCT patients with AZS is still a challenge. This study reported 4 RCT carriers, which were 46,XY,t(1;6) (p36.1;p21), 46,XY,t (6;10) (p21;q11.2), 46,XY,t (6;11) (p21;p15), and 46,XY,t (6;17) (p21;q21), respectively. The association between chromosome 6p21 translocation and AZS is discussed, considering 19 published cases as well. In 6 patients with available semen parameters and 4 patients in this study, all of them were diagnosed with AZS. The SLC26A8 gene and the DNAH8 gene located on chromosome 6p21 are closely related to AZS by gene search using OMIM. For the chromosome 6p21 breakpoint, 72 pathogenic genes were found through the DECIPHER search. Gene ontology analysis showed that these target genes have several molecular functions and are strongly involved in various biological processes. The proteins expressed by these genes are involved in multiple cellular components. These results suggest that the breakpoint of chromosome 6p21 in male RCT carriers is closely related to AZS. The breakpoint may disrupt the structure and function of related genes, resulting in reduced sperm motility. Karyotype analysis should be recommended for AZS patients. Chromosomes and breakpoints involved in RCT should be paid attention to in genetic counseling for patients.

show abstract

Section: Discussionmentioning

confidence: 78%

“…[36] Sperm motility deficiencies are at risk due to chromosomal translocation. [8] Sperm motility and progressive motility were considerably lower in RCT carriers than in control groups. [37] However, RCT carriers and the control group did not differ in terms of progressive sperm motility and motility grade D, according to Pastuszek et al’s [38] research.…”

Section: Discussionmentioning

confidence: 99%

“…[4–6] Reciprocal chromosomal translocation (RCT) is an important chromosome structural abnormality and has been reported to affect sperm number, morphology, and motility. [7,8]…”

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Association between chromosome 6p21 translocation and asthenozoospermia: A retrospective, observational study

et al. 2023

View full text Add to dashboard Cite

show abstract

Editorial: Molecular and cytogenetic research advances in human reproduction - volume II

et al. 2023

View full text Add to dashboard Cite

Editorial on the Research Topic Molecular and cytogenetic research advances in human reproductionvolume IIInfertility is a prevalent disorder that affects over 15% of couples worldwide, with various causes such as meiotic arrest due to cytogenetic shuffling, toxins, and other physical factors (1-4). Among the genetic causes of male infertility, chromosomal abnormalities have been reported in approximately 6% of cases, and microdeletions in the Y chromosome account for spermatogenic failure in 5-20% of men with azoospermia (3, 5-8). The most common structural Y chromosome aberrations in infertile men with azoospermia have been reported to be an isodicentric or isochromosome Y, with duplications in the Yp region and deletions in the Yq region, or vice versa (9-12). The human X and Y chromosomes pair at their distal short arms during male meiosis, with the telomeres first approaching each other during the zygotene stage of meiotic prophase (13, 14). As pachytene progresses, a paired segment is formed, and a synaptonemal complex (SC) which, on average, extends to about one-third of the total length of the Y chromosome (15-17).Recently, pathogenic genetic mutations have been identified in individuals suffering from reproductive disorders; these mutations are generally detected in the genes mainly involved in germ cell development and other reproductive processes (18-21). Nevertheless, thousands of functionally relevant genes are expressed in human testes and ovaries, and malfunctioning of even a single gene can potentially cause infertility (22)(23)(24). Although the overall mechanistic contribution of specific genes has been studied in animal models, more attention is now being paid to clinically detected alterations in DNA, which include mutations potentially affecting gene regulatory sequences such as the 3'UTR (25, 26). However, the impact of mutations in gene 3'UTR sequences may not be adequately recognized in current sequencing analyses. This provides a potentially massive gap between Frontiers in Endocrinology frontiersin.org 01

show abstract

Chromosome 17 translocation affects sperm morphology: Two case studies and literature review

Cited by 2 publications

References 105 publications

Association between chromosome 6p21 translocation and asthenozoospermia: A retrospective, observational study

Association between chromosome 6p21 translocation and asthenozoospermia: A retrospective, observational study

Editorial: Molecular and cytogenetic research advances in human reproduction - volume II

Contact Info

Product

Resources

About