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Page 1
[Ring 22 chromosome syndrome induced azoospermia: a case report and literature review].
Sha YW, Ding L, Song YQ, Ge YS, Zeng H, Li P. Sha YW, et al. Zhonghua Nan Ke Xue. 2012 Dec;18(12):1111-4. Zhonghua Nan Ke Xue. 2012. PMID: 23405794 Review. Chinese.
OBJECTIVE: To investigate the clinical phenotype and genetic characteristics of an azoospermia patient with ring 22 chromosome syndrome. METHODS: We analyzed the clinical data of an azoospermia patient with ring 22 chromosome syndrome and reviewed rele …
OBJECTIVE: To investigate the clinical phenotype and genetic characteristics of an azoospermia patient with ring 22 chromosome …
Ring 22 duplication/deletion mosaicism: clinical, cytogenetic, and molecular characterisation.
Frizzley JK, Stephan MJ, Lamb AN, Jonas PP, Hinson RM, Moffitt DR, Shkolny DL, McDermid HE. Frizzley JK, et al. J Med Genet. 1999 Mar;36(3):237-41. J Med Genet. 1999. PMID: 10204853 Free PMC article.
A patient with several features consistent with duplication of 22q11.2 (cat eye syndrome or CES) was found to be mosaic for a dicentric double ring chromosome 22 on postnatal karyotyping of peripheral blood. The initial karyotype was 46,XX,r(22)(p12q13) [46]/ …
A patient with several features consistent with duplication of 22q11.2 (cat eye syndrome or CES) was found to be mosaic for a dicentric doub …
Pathogenesis of vestibular schwannoma in ring chromosome 22.
Denayer E, Brems H, de Cock P, Evans GD, Van Calenbergh F, Bowers N, Sciot R, Debiec-Rychter M, Vermeesch JV, Fryns JP, Legius E. Denayer E, et al. BMC Med Genet. 2009 Sep 22;10:97. doi: 10.1186/1471-2350-10-97. BMC Med Genet. 2009. PMID: 19772601 Free PMC article.
BACKGROUND: Ring chromosome 22 is a rare human constitutional cytogenetic abnormality. ...CONCLUSION: We conclude that tumours can arise by the combination of loss of the ring chromosome and a pathogenic NF2 mutation on the remaining chromosome 22 in p …
BACKGROUND: Ring chromosome 22 is a rare human constitutional cytogenetic abnormality. ...CONCLUSION: We conclude that tumours …
Ring 22 chromosomes in dermatofibrosarcoma protuberans are low-level amplifiers of chromosome 17 and 22 sequences.
Pedeutour F, Simon MP, Minoletti F, Sozzi G, Pierotti MA, Hecht F, Turc-Carel C. Pedeutour F, et al. Cancer Res. 1995 Jun 1;55(11):2400-3. Cancer Res. 1995. PMID: 7757993
Ring chromosomes have been found with some regularity as solid tumors have come increasingly under cytogenetic study. ...Using a modified method for comparative genomic hybridization and fluorescent in situ hybridization with a panel of various probes, we found that these …
Ring chromosomes have been found with some regularity as solid tumors have come increasingly under cytogenetic study. ...Using a modi …
Prenatal diagnosis of mosaic ring 22 duplication/deletion with terminal 22q13 deletion due to abnormal first trimester screening and choroid plexus cyst detected on ultrasound.
Koç A, Arisoy O, Pala E, Erdem M, Kaymak AO, Erkal O, Karaoğuz MY. Koç A, et al. J Obstet Gynaecol Res. 2009 Oct;35(5):978-82. doi: 10.1111/j.1447-0756.2009.01040.x. J Obstet Gynaecol Res. 2009. PMID: 20149051
Additional prenatal study of the amniotic fluid by fluorescence in situ hybridization was performed and the terminal 22q13.3 deletion was detected on ring chromosome. The final karyotype was 45,XX,-22[3]/46,XX,r(22)(p11q13.2)[63]/46,XX,idicr(22)(p11q13 …
Additional prenatal study of the amniotic fluid by fluorescence in situ hybridization was performed and the terminal 22q13.3 deletion was de …
Meiotic and mitotic behaviour of a ring/deleted chromosome 22 in human embryos determined by preimplantation genetic diagnosis for a maternal carrier.
Mantzouratou A, Mania A, Apergi M, Laver S, Serhal P, Delhanty J. Mantzouratou A, et al. Mol Cytogenet. 2009 Jan 23;2:3. doi: 10.1186/1755-8166-2-3. Mol Cytogenet. 2009. PMID: 19166580 Free PMC article.
An exception to this rule is provided by deletion/ring cases. We were provided with a unique opportunity to investigate the meiotic segregation at oogenesis in a woman who is a carrier of a deleted/ring 22 chromosome. ...Three oocytes apparently had a balance …
An exception to this rule is provided by deletion/ring cases. We were provided with a unique opportunity to investigate the meiotic s …
Azoospermia in a man with a constitutional ring 22 chromosome.
Zuccarello D, Dallapiccola B, Novelli A, Foresta C. Zuccarello D, et al. Eur J Med Genet. 2010 Nov-Dec;53(6):389-91. doi: 10.1016/j.ejmg.2010.07.014. Epub 2010 Aug 10. Eur J Med Genet. 2010. PMID: 20709628
A mosaic ring chromosome 22 (mos 46,XY,r(22)[93]/45,XY,-22[7]) was found in an euploid azoospermic otherwise phenotypically normal individual. ...Only a few cases of r(22) chromosome are known in which deletion of the very distal telomeric regio …
A mosaic ring chromosome 22 (mos 46,XY,r(22)[93]/45,XY,-22[7]) was found in an euploid azoospermic otherwise phe …
The use of sequential silver and quinacrine staining to determine the parental origin and breakpoints of a ring-22 human chromosome.
Fowler G, Kaiser-McCaw B, Hecht F. Fowler G, et al. Clin Genet. 1980 Oct;18(4):274-9. doi: 10.1111/j.1399-0004.1980.tb00885.x. Clin Genet. 1980. PMID: 6159998
We delineated a G-ring syndrome in 1968 and suggested it was due to a ring-22 (Weleber et al. 1969). We confirmed in 1972 that the ring was derived from chromosome 22 (Magenis et al. 1973). The present report constitutes a new case of the rin …
We delineated a G-ring syndrome in 1968 and suggested it was due to a ring-22 (Weleber et al. 1969). We confirmed in 19 …
Prenatal diagnosis of an unexpected interstitial 22q11.2 deletion causing truncus arteriosus and thymic hypoplasia in a ring 22 chromosome derived from a maternally inherited paracentric inversion.
McClarren J, Donnenfeld AE, Ravnan JB. McClarren J, et al. Prenat Diagn. 2006 Dec;26(13):1212-5. doi: 10.1002/pd.1590. Prenat Diagn. 2006. PMID: 17099929
OBJECTIVE: To present the prenatal diagnosis of an interstitial 22q11.2 deletion involving a ring 22 chromosome associated with truncus arteriosus and a hypoplastic thymus. ...The fetus was subsequently diagnosed with truncus arteriosus and a hypoplastic thymus, con …
OBJECTIVE: To present the prenatal diagnosis of an interstitial 22q11.2 deletion involving a ring 22 chromosome associated wit …
A de novo atypical ring sSMC(22) characterized by array CGH in a boy with cat-eye syndrome.
Haltrich I, Pikó H, Kiss E, Tóth Z, Karcagi V, Fekete G. Haltrich I, et al. Mol Cytogenet. 2014 Jun 5;7:37. doi: 10.1186/1755-8166-7-37. eCollection 2014. Mol Cytogenet. 2014. PMID: 24959203 Free PMC article.
Chromosome analysis revealed a mosaic karyotype with the presence of a small ring-like marker in 60% of cells. Array CGH detected approximately an 1,2 Mb single and a 0,2 Mb double copy gain of the proximal long arm of chromosome 22. The 1,3 Mb intervening region of …
Chromosome analysis revealed a mosaic karyotype with the presence of a small ring-like marker in 60% of cells. Array CGH detected app …
48 results