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Year Number of Results
1975 2
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1986 1
1987 1
1988 2
1990 2
1995 3
1999 1
2000 1
2001 1
2003 1
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[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 …
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. Clinical features of neurofibromatosis type 1 and 2 as well as different tumour types have been reported in patients with ring chromosome 22. ...CONCLUSION: We concl …
BACKGROUND: Ring chromosome 22 is a rare human constitutional cytogenetic abnormality. Clinical features of neurofibromatosis …
A compact trench-assisted multi-orbital-angular-momentum multi-ring fiber for ultrahigh-density space-division multiplexing (19 rings × 22 modes).
Li S, Wang J. Li S, et al. Sci Rep. 2014 Jan 24;4:3853. doi: 10.1038/srep03853. Sci Rep. 2014. PMID: 24458159 Free PMC article.
We present a compact (130 μm cladding diameter) trench-assisted multi-orbital-angular-momentum (OAM) multi-ring fiber with 19 rings each supporting 22 modes with 18 OAM ones. ...It is found that high-order OAM modes show preferable tolerance to the ring ellip …
We present a compact (130 μm cladding diameter) trench-assisted multi-orbital-angular-momentum (OAM) multi-ring fiber with 19 rings e …
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.
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 balanced chromosome 22 complement but all had the deleted and the …
We were provided with a unique opportunity to investigate the meiotic segregation at oogenesis in a woman who is a carrier of a deleted/r …
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. ...The majority of subjects with constitutional r(22) are dysmorphic and mentally retarded due to dele …
A mosaic ring chromosome 22 (mos 46,XY,r(22)[93]/45,XY,-22[7]) was found in an euploid azoospermic otherwise phe …
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. ...CONCLUSIONS: The present repo …
Chromosome analysis revealed a mosaic karyotype with the presence of a small ring-like marker in 60% of cells. Array CGH detected app …
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. ...We suggest that the CES features in this patient, and p …
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 …
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
The final karyotype was 45,XX,-22[3]/46,XX,r(22)(p11q13.2)[63]/46,XX,idicr(22)(p11q13.2;p11q13.2)[2]dn.ishder(22)(N25+, ARSA-, ter-). ...Cytogenetic analysis of the intracardiac blood also revealed ring 22 mosaicism with only one metaphas …
The final karyotype was 45,XX,-22[3]/46,XX,r(22)(p11q13.2)[63]/46,XX,idicr(22)(p11q13.2;p11q13.2)[2]dn.ishder(22 …
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
CASE: Following the sonographic diagnosis of a cystic hygroma at 12 weeks of gestation, chromosome analysis revealed a ring 22 chromosome. ...CONCLUSION: The ring chromosome 22 found in the fetus appears to have been derived from a rearrangement of the …
CASE: Following the sonographic diagnosis of a cystic hygroma at 12 weeks of gestation, chromosome analysis revealed a ring 22 …
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 Free article.
Dermatofibrosarcoma protuberans, a tumor of the deep dermis, consistently has supernumerary ring chromosomes, sometimes as the sole detectable cytogenetic change. Using a modified method for comparative genomic hybridization and fluorescent in situ hybridization with a pan …
Dermatofibrosarcoma protuberans, a tumor of the deep dermis, consistently has supernumerary ring chromosomes, sometimes as the sole d …
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