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Prenatal diagnosis and molecular cytogenetic characterization of rec(10)dup(10p)inv(10)(p11.2q26.3) in a fetus associated with paternal pericentric inversion.
Chen CP, Ko TM, Su YN, Wang LK, Chern SR, Wu PS, Chen YN, Chen SW, Ko K, Lee CC, Chen LF, Yang CW, Wang W. Chen CP, et al. Taiwan J Obstet Gynecol. 2016 Oct;55(5):733-737. doi: 10.1016/j.tjog.2016.07.007. Taiwan J Obstet Gynecol. 2016. PMID: 27751426 Free article.
She underwent repeat amniocentesis at 21 weeks of gestation and array comparative genomic hybridization revealed a 31.65-Mb duplication of chromosome 10p15.3-p11.22 and a 3.07-Mb deletion of chromosome 10q26.3. ...Postnatal cytogenetic analysis of the placent …
She underwent repeat amniocentesis at 21 weeks of gestation and array comparative genomic hybridization revealed a 31.65-Mb duplication …
Clinical genetic testing for patients with autism spectrum disorders.
Shen Y, Dies KA, Holm IA, Bridgemohan C, Sobeih MM, Caronna EB, Miller KJ, Frazier JA, Silverstein I, Picker J, Weissman L, Raffalli P, Jeste S, Demmer LA, Peters HK, Brewster SJ, Kowalczyk SJ, Rosen-Sheidley B, McGowan C, Duda AW 3rd, Lincoln SA, Lowe KR, Schonwald A, Robbins M, Hisama F, Wolff R, Becker R, Nasir R, Urion DK, Milunsky JM, Rappaport L, Gusella JF, Walsh CA, Wu BL, Miller DT; Autism Consortium Clinical Genetics/DNA Diagnostics Collaboration. Shen Y, et al. Pediatrics. 2010 Apr;125(4):e727-35. doi: 10.1542/peds.2009-1684. Epub 2010 Mar 15. Pediatrics. 2010. PMID: 20231187 Free PMC article.
CMA results were normal in 10 of 852 patients (1.2%) with abnormal karyotype due to balanced rearrangements or unidentified marker chromosome. CMA with whole-genome coverage and CMA with targeted genomic regions detected clinically relevant copy-number changes in 7.3% (51 …
CMA results were normal in 10 of 852 patients (1.2%) with abnormal karyotype due to balanced rearrangements or unidentified marker chromo …
Fluconazole Monotherapy Is a Suboptimal Option for Initial Treatment of Cryptococcal Meningitis Because of Emergence of Resistance.
Hope W, Stone NRH, Johnson A, McEntee L, Farrington N, Santoro-Castelazo A, Liu X, Lucaci A, Hughes M, Oliver JD, Giamberardino C, Mfinanga S, Harrison TS, Perfect JR, Bicanic T. Hope W, et al. mBio. 2019 Dec 3;10(6):e02575-19. doi: 10.1128/mBio.02575-19. mBio. 2019. PMID: 31796539 Free PMC article.
Cryptococcal meningitis is a lethal disease with few therapeutic options. Induction therapy with fluconazole has been consistently demonstrated to be associated with suboptimal microbiological and clinical outcomes. ...Emergence of resistance was observed in vivo wi …
Cryptococcal meningitis is a lethal disease with few therapeutic options. Induction therapy with fluconazole has been consiste …
Comparative genomic hybridization-assisted prenatal diagnosis of a de novo inverted duplication of chromosome 10q. A case report.
Chen CK, Chang SD, Chen YJ, Hsueh DW, Soong YK. Chen CK, et al. J Reprod Med. 2003 May;48(5):391-4. J Reprod Med. 2003. PMID: 12815917
Conventional chromosomal analysis from cultured amniotic fluid cells revealed additional material added to the end of the long arm of 1 chromosome 10. With the aid of CGH, a cytogenetic diagnosis of 46, XY, inv dup(10)(q26q22) was made. ...
Conventional chromosomal analysis from cultured amniotic fluid cells revealed additional material added to the end of the long arm of 1 c …