A randomized and blinded comparison of qPCR and NGS-based detection of aneuploidy in a cell line mixture model of blastocyst biopsy mosaicism [PDF]
, 2016 core +1 more source
Turner Syndrome: A Unique Mosaic Case with 45,X/47,XX,+21/46,XX Cell Lines
Iranian Journal of Medical Sciences, 2018 We report an extremely rare case of Turner syndrome mosaicism in a 30-year-old woman. At least 100 metaphases were observed and analyzed through GTG banding with over 550 band resolutions observed.
Mirela Mačkić-Đurović +2 more
doaj
Taiwanese Journal of Obstetrics & Gynecology, 2022 Rujittika Mungmunpuntipantip +1 more
doaj +1 more source
Concomitant Chromosomal and Molecular Aberrations in Trisomy 8 Mosaicism and Associated Compound Phenotypes: Report of Three Cases and Review of Literature. [PDF]
Case Rep GenetAbdelhamed Z +10 more
europepmc +1 more source
Concurrent 12p trisomy and 4q34.2-q35.2 deletion detected by WES-CNV: Case report. [PDF]
Medicine (Baltimore)Sun X, Lin S, Wang W, Qi Y, Jiang K.
europepmc +1 more source
In the era of copy number variation sequencing: changes in the target population for prenatal diagnosis and what is the optimal prenatal diagnostic strategy? [PDF]
Front Med (Lausanne)Yang S +6 more
europepmc +1 more source
Prenatal Diagnosis of Paternal Uniparental Isodisomy 14 Arising From the Transfer of a Mosaic Monosomy 14 Embryo. [PDF]
CureusMinick J, Lende M.
europepmc +1 more source
Parental and cell-division origin analysis to reduce false-positives in mosaic embryos for preimplantation genetic testing. [PDF]
Hum Reprod OpenZhang Q +15 more
europepmc +1 more source
Prenatal diagnosis and pregnancy outcomes of mosaicism detected by CMA-seq. [PDF]
BMC Pregnancy ChildbirthChang J +7 more
europepmc +1 more source