Azoospermia and ring chromosome 9—a case report

Laursen, Rita Jakubcionyte; Tüttelmann, Frank; Humaıdan, Peter; Elbæk, Helle Olesen; Alsbjerg, Birgit; Röpke, Albrecht

doi:10.1007/s10815-014-0388-8

Cited by 6 publications

(5 citation statements)

References 22 publications

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“…The r(9) patients of Qin et al (2016) and Marsudi et al (2018) supported that haploinsufficiency of the DMRT1 gene could lead to 46,XY complete gonadal dysgenesis and sex reversal. The relevant manifestations of Nicolaides‐Baraitser syndrome were shown in the r(9) patients of La Cour Sibbesen et al (2013), Sivasankaran et al (2016) and Qin et al (2016) but not in the patients of Laursen et al (2015), Lyu et al (2019) and the present patient. The phenotypes of isolated metopic craniosynostosis and trigonocephaly were also seen in the r(9) studies of La Cour Sibbesen et al (2013), Sivasankaran et al (2016) and Qin et al (2016).…”

Section: Discussionmentioning

confidence: 38%

“…The dynamic mosaicism and the relevant clinical features of growth and developmental delay, mild to severe intellectual disability, and microcephaly were regarded as “ring syndrome” (Kosztolányi, 1987, Paramayuda et al, 2012) and likely contributed to phenotypic variations of these r(9) patients. The azoospermia with small testes in the r(9) patient of the Laursen et al (2015) was probably attributed to the instable ring in meiosis as the patient was a 30‐year‐old healthy male with only a 435 kb cryptic deletion in 9pter of the r(9).…”

Section: Discussionmentioning

confidence: 98%

“…Review of literature found seven patients of r(9) with clinical and cytogenomic findings, including one prenatal fetus (Penacho et al, 2014) and six postnatal patients (La Cour Sibbesen, Jespersgaard, Alosi, Bisgaard, & Tümer, 2013; Laursen et al, 2015; Sivasankaran, Kanakavalli, Anuradha, Samuel, & Kandukuri, 2016; Qin et al, 2016; Marsudi et al, 2018; Lyu, Li, Li, Shang, & Ma, 2019). Ring chromosome instability index (RCII) was defined as the percentage of cells with ring chromosome variants and loss of ring chromosome.…”

Section: Methodsmentioning

confidence: 99%

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Ring chromosome formation by intra‐strand repairing of subtelomeric double stand breaks and clinico‐cytogenomic correlations for ring chromosome 9

Chai

Wen

et al. 2020

American J of Med Genetics Pt A

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Constitutional ring chromosome 9, r(9), is a rare chromosomal disorder. Cytogenomic analyses by karyotyping, array comparative genomic hybridization (aCGH) and whole genome sequencing (WGS) were performed in a patient of r(9). Karyotyping detected a mosaic pattern of r(9) and monosomy 9 in 83% and 17% of cells, respectively. aCGH detected subtelomeric deletions of 407 kb at 9p24.3 and 884 kb at 9q34.3 and an interstitial duplication of 5.879 Mb at 9q33.2q34.11. WGS revealed double strand breaks (DSBs) at ends of 9p24.3 and 9q34.3, inverted repeats at ends of subtelomeric and 9q33.2q34.11 regions, and microhomology sequences at the junctions of this r(9). This is the first report of r(9) analyzed by WGS to delineate the mechanism of ring chromosome formation from repairing of subtelomeric DSBs. The loss of telomeres by subtelomeric DSBs triggered inverted repeats induced intra-strand foldback and then microhomology mediated synthesis and ligation, which resulted in the formation of this r(9) with distal deletions and an interstitial duplication. Review of literature found seven patients of r(9) with clinical and cytogenomic findings. These patients and the present patient were registered into the Human Ring Chromosome Registry and a map correlating critical regions and candidate genes with relevant phenotypes was constructed. Variable phenotypes of r(9) patients could be explained by critical regions and genes of DOCK8, DMRT, SMARCA2, CD274, IL33, PTPRD, CER1, FREM1 for 9p deletions, and the EHMT1 gene for 9q34 deletion syndrome. This interactive registry of r(9) could provide information for cytogenomic diagnosis, genetics counseling and clinical management. K E Y W O R D S clinical and cytogenomic findings, double stand breaks repairing, mechanism of ring chromosome formation, ring chromosome 9, whole genome sequencing 1 | INTRODUCTION Constitutional ring chromosomes which can involve any one of the 22 autosomes and sex chromosomes occur in about 1/50,000 newborns (Kosztolányi, 1987). Ring chromosomes arise typically from the breakage and subsequent fusion of both chromosome arms. Based on the integrity of genetic material, there are two types of ring chromosomes. One type is a complete ring resulting from subtelomeric fusion without any significant loss of genetic material, and the other type of incomplete ring shows distal or interstitial deletions and

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Section: Discussionmentioning

confidence: 38%

Section: Discussionmentioning

confidence: 98%

Section: Methodsmentioning

confidence: 99%

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Ring chromosome formation by intra‐strand repairing of subtelomeric double stand breaks and clinico‐cytogenomic correlations for ring chromosome 9

Chai

Wen

et al. 2020

American J of Med Genetics Pt A

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“…Furthermore, ring chromosomes usually arise de novo , with only 1% inherited 10 . Of the inherited cases, 90% are maternal since the presence of a ring blocks spermatogenesis and induces infertility in males 12, 13 .…”

Section: Discussionmentioning

confidence: 99%

Rheumatoid arthritis in an adult patient with mosaic distal 18q-, 18p- and dicentric ring chromosome 18

et al. 2017

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“…Acquired ring chromosomes have been found in most types of human neoplasia, with a frequency approaching 10% in malignant mesenchymal tumors (Gisselsson et al, 1999). The cytogenetic delineation of ring chromosomes is further complicated by their structural instability (McClintock, 1938;Lejeune, 1968), where during the fusion of deletions, inversions, mutations, and duplications can arise (Laursen et al, 2015;Conlin et al, 2011), resulting in a variable formation of ring chromosome in malignant disorder (Laursen et al, 2015). The f present indings demonstrated that DMH induced RCC in male rabbits after 4 weeks of exposure and found to harbor higher levels of genomic instability and reflected a histological defects than which were occurred in control and DADS treated animal groups.…”

Section: Discussionmentioning

confidence: 99%

Diallyl disulfide protects against rectal cancer in vivo model of male rabbits: II-Analysis of histological and cytogenetic variations

Habib¹,

Altonsy²,

El-Raheem³

et al. 2016

J. Cancer Res. Exp. Oncol.

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The present work was conducted to perform a short-term comparative analysis and evaluate the antineoplastic effects of diallyl disulfide on rectal carcinogenicity via histopathological changes, chromosomal aberrations, and mitotic index induced by 1,2-dimethylhydrazine on male rabbits (Orectolagus cuniculus). The histological changes that can be seen microscopically showed that 1,2dimethylhydrazine at the suggested dose (20 mg/kg) produced significant alterations in rectal mucosa of 1,2-dimethylhydrazine group. The presence of dysplasia was regarded as an early histopathological changes in the precursor lesions of rectal cancer. Three varieties of intrachromosomal instability were detected, deletions (1p12, 15q23, 21q14), duplications (5q14; 13q23, 14q21) and ring (X) chromosome with a highly significant increase (P<0.05) in comparison with control. Such aberrations were markedly inclined in 1,2-dimethylhydrazine group after treatment by diallyl disulfide and the pretreated group that received diallyl disulfide prior to 1,2-dimethylhydrazine injection with a significant decrease (P<0.01). Mitotic index ranged from 46, 22, 17, and 18% to 20% in 1,2-dimethylhydrazine, 1,2dimethylhydrazine +diallyl disulfide, diallyl disulfide, control, and pretreated diallyl disulfide +1,2dimethylhydrazine groups, respectively. Examination of 1,2-dimethylhydrazine group showed that it caused neoplastic changes with cytogenetic abnormality identified by hematoxylin and eosin staining and G-banding analysis, respectively. Such changes were similar to those seen in human sporadic colorectal carcinogenesis.

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Azoospermia and ring chromosome 9—a case report

Cited by 6 publications

References 22 publications

Ring chromosome formation by intra‐strand repairing of subtelomeric double stand breaks and clinico‐cytogenomic correlations for ring chromosome 9

Ring chromosome formation by intra‐strand repairing of subtelomeric double stand breaks and clinico‐cytogenomic correlations for ring chromosome 9

Rheumatoid arthritis in an adult patient with mosaic distal 18q-, 18p- and dicentric ring chromosome 18

Diallyl disulfide protects against rectal cancer in vivo model of male rabbits: II-Analysis of histological and cytogenetic variations

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