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1978 1
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2004 1
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2010 1
2011 1
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2013 2
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High-grade glioma with pleomorphic and pseudopapillary features (HPAP): a proposed type of circumscribed glioma in adults harboring frequent TP53 mutations and recurrent monosomy 13.
Pratt D, Abdullaev Z, Papanicolau-Sengos A, Ketchum C, Panneer Selvam P, Chung HJ, Lee I, Raffeld M, Gilbert MR, Armstrong TS, Pytel P, Borys E, Klonoski JM, McCord M, Horbinski C, Brat D, Perry A, Solomon D, Eberhart C, Giannini C, Quezado M, Aldape K. Pratt D, et al. Acta Neuropathol. 2022 Mar;143(3):403-414. doi: 10.1007/s00401-022-02404-9. Epub 2022 Feb 1. Acta Neuropathol. 2022. PMID: 35103816 Free PMC article.
IgM Plasma Cell Myeloma.
Lu H, Durkin L, Zhao X, Nakashima MO. Lu H, et al. Am J Clin Pathol. 2022 Jan 6;157(1):47-53. doi: 10.1093/ajcp/aqab095. Am J Clin Pathol. 2022. PMID: 34508562
Three of four tested cases were positive for t(11;14) by fluorescence in situ hybridization, one with monosomy 13. The remaining case was positive for del13q14. All were negative for MYD88 L265P and WHIM-like CXCR4 mutations. ...
Three of four tested cases were positive for t(11;14) by fluorescence in situ hybridization, one with monosomy 13. The remaini …
Prognostic significance of acquired 1q22 gain in multiple myeloma.
Audil HY, Cook JM, Greipp PT, Kapoor P, Baughn LB, Dispenzieri A, Gertz MA, Buadi FK, Lacy MQ, Dingli D, Fonder AL, Hayman SR, Hobbs MA, Muchtar E, Siddiqui M, Gonsalves WI, Hwa YL, Leung N, Lin Y, Kourelis TV, Warsame R, Kyle RA, Ketterling RP, Rajkumar SV, Kumar SK. Audil HY, et al. Am J Hematol. 2022 Jan 1;97(1):52-59. doi: 10.1002/ajh.26391. Epub 2021 Nov 3. Am J Hematol. 2022. PMID: 34710241 Free article.
Abnormalities on baseline fluorescence in situ hybridization (FISH) included trisomies (54%) and monosomy 13 (39%); 16 (25%) had high-risk (HR) translocations or del(17p). ...
Abnormalities on baseline fluorescence in situ hybridization (FISH) included trisomies (54%) and monosomy 13 (39%); 16 (25%) h …
In vitro fertilization and preimplantation genetic diagnosis outcomes in mosaic Turner's syndrome: A retrospective cohort study from a single referral center experience.
Acet F, Sahin G, Ucar AAO, Emirdar V, Karaca E, Durmaz B, Goker ENT, Tavmergen E. Acet F, et al. J Gynecol Obstet Hum Reprod. 2022 Sep;51(7):102405. doi: 10.1016/j.jogoh.2022.102405. Epub 2022 May 13. J Gynecol Obstet Hum Reprod. 2022. PMID: 35569796
In embryos with 2 abnormal chromosomes, the most common 2 abnormalities were monosomy 13 and trisomy 21, while trisomy 13, trisomy X and monosomy 18 were found in 3 or more abnormalities, respectively. ...
In embryos with 2 abnormal chromosomes, the most common 2 abnormalities were monosomy 13 and trisomy 21, while trisomy 13, tri …
Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for r(13), monosomy 13 and idic r(13) by amniocentesis.
Chen CP, Chen CY, Chern SR, Wu PS, Chen SW, Lee CC, Chen LF, Wang W. Chen CP, et al. Taiwan J Obstet Gynecol. 2020 Jan;59(1):130-134. doi: 10.1016/j.tjog.2019.11.021. Taiwan J Obstet Gynecol. 2020. PMID: 32039781 Free article.
OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of mosaicism for ring chromosome 13 [r(13)], monosomy 13 and isodicentric ring chromosome 13 [idic r(13)] by amniocentesis. ...Polymorphic DNA marker analysis confirmed a maternal or …
OBJECTIVE: We present prenatal diagnosis and molecular cytogenetic characterization of mosaicism for ring chromosome 13 [r(13)], monosomy …
Prenatal diagnosis of a case of partial monosomy/monosomy 13 mosaicism: 46,XX,r(13)(p11q33)/45,XX,-13 suspected by nuchal fold translucency increasing.
Kataoka A, Hirakawa S, Iwamoto M, Sakumura Y, Yoshinaga R, Ohba T. Kataoka A, et al. Kurume Med J. 2011;58(4):127-30. doi: 10.2739/kurumemedj.58.127. Kurume Med J. 2011. PMID: 23047142 Free article.
Large numbers of patients with deletions of the long arm of chromosome 13 have been described. However, only a few instances have been reported of monosomy 13/r(13) mosaicism. A 31-year-old Japanese woman underwent an ultrasound tomographic screening, which detected …
Large numbers of patients with deletions of the long arm of chromosome 13 have been described. However, only a few instances have been repor …
Cytogenetic Abnormalities in Multiple Myeloma Patients at a Tertiary Healthcare Center in India.
Govindasamy P, Pandurangan P, Tarigopula A, Mani R, R Samuel C. Govindasamy P, et al. Asian Pac J Cancer Prev. 2019 Jan 25;20(1):235-241. doi: 10.31557/APJCP.2019.20.1.235. Asian Pac J Cancer Prev. 2019. PMID: 30678438 Free PMC article.
A translocation involving the IGH gene alone or accompanied by trisomy(ies) or by monosomy 13/13q deletion or by both was registered in 80 (37.2%) patients. Atypical patterns such as a deletion of the IGH variable segment (IGHv) on the derivative chromosome 14 or on …
A translocation involving the IGH gene alone or accompanied by trisomy(ies) or by monosomy 13/13q deletion or by both was regi …
Tissue-limited mosaicism for monosomy 13.
Golabi M, James AW, Good WV, Cotter PD. Golabi M, et al. Am J Med Genet A. 2010 Oct;152A(10):2634-9. doi: 10.1002/ajmg.a.33651. Am J Med Genet A. 2010. PMID: 20814946
We report on a patient with multiple congenital anomalies and mosaicism for monosomy 13 limited to fibroblasts. Findings include microcephaly, agenesis of the corpus callosum, bilateral posterior colobomas, cataract and optic nerve dysplasia, patent foramen ovale, r …
We report on a patient with multiple congenital anomalies and mosaicism for monosomy 13 limited to fibroblasts. Findings inclu …
Trisomy 13 mosaicism: study of serial cytogenetic changes in a case from early pregnancy to infancy.
Chen M, Yeh GP, Shih JC, Wang BT. Chen M, et al. Prenat Diagn. 2004 Feb;24(2):137-43. doi: 10.1002/pd.814. Prenat Diagn. 2004. PMID: 14974123 Review.
The process of correction appeared to exist in the placenta (indirect evidence from coexistence of trisomy 13 [46,XX,der(13;13)(q10,q10)], euploidy [46,XX], aneuploidy [46,XX,-13, +mar], and monosomy 13 [45,XX,-13] in the chorion at birth). The baby had survived bey …
The process of correction appeared to exist in the placenta (indirect evidence from coexistence of trisomy 13 [46,XX,der(13;13)(q10,q10)], e …
Results of preimplantation genetic diagnosis in patients with Klinefelter's syndrome.
Kahraman S, Findikli N, Berkil H, Bakircioglu E, Donmez E, Sertyel S, Biricik A. Kahraman S, et al. Reprod Biomed Online. 2003 Oct;7(3):346-52. doi: 10.1016/s1472-6483(10)61876-7. Reprod Biomed Online. 2003. PMID: 14653898
Besides sex chromosomal abnormalities, other abnormalities detected were haploidy, triploidy, monosomy 13, monosomy 18 and trisomy 13. Five blastomeres were analysed for sex chromosomes only and all of them were found to be normal. ...
Besides sex chromosomal abnormalities, other abnormalities detected were haploidy, triploidy, monosomy 13, monosomy 18 and tri …
35 results