Objective: We present low-level mosaic trisomy 13 at amniocentesis associated with a favorable outcome in a pregnancy.Chen, Chih-PingChern, Schu-RernWu, Fang-TzuChen, Yun-YiLee, Meng-ShanWang, WayseenMacKay Mem Hosp Dept Obstet &Taiwanese journal of obstetrics and gynecology...
We present low-level mosaic trisomy 13 at amniocentesis associated with a favorable outcome in a pregnancy. Case report A 39-year-old woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age. Amniocentesis revealed a karyotype of 47,XY,+13[8]/46,XY[20]. The wo...
The peripheral blood had a karyotype of 46,XY, and interphase FISH analysis on uncultured urinary cells revealed a mosaic trisomy 13 level of 4.4% (2/45 cells). Conclusion Low-level true mosaicism for trisomy 13 at amniocentesis without ultrasound abnormalities can be associated with a favorable...
(c) Identification of the precise region of duplication located in 7q36.2 (153476694-153660423) × 3 in sample 12ZS121913. (d) MLPA validation reflects the increased dosage of 7q36.2. (e) NGS and (f) CMA results show consistent mosaic trisomy 2 (percentage: 40–50%) in sample 14S...
Apart from chromosome 18 trisomy, both methods detected no aneuploidies across other chromosomes. We next asked whether the low levels of aneuploidy repeatedly reported in the brain and liver using scL-WGS could be due to underestimation, such as through saturation of DNA yield during single-cell ...
Background A discrepancy between the fetal karyotype and the appearance of genitalia on ultrasound can be a diagnostic challenge. In these cases, it is difficult to shorten the extensive list of differential diagnoses without information on internal anat
for the child in case of low rate mosaic trisomy 13 in amniotic fluid, we propose at birth: i) to take several samples from the placenta to confirm placental mosaicism; ii) to label by FISH buccal smears with a LSI 13 probe to prove that the baby is not a carrier of the trisomy.Eto...
Prenatal diagnosis of low-level mosaic trisomy 7 by amniocentesis. Prenat Diagn 2005;24: 1067e9.Chen CP, Chern SR, Chen LF, et al. Prenatal diagnosis of low-level mosaic trisomy 7 by amniocentesis. Prenat Diagn. 2005;25:1067-1069.
Abstract Objective We present prenatal diagnosis of low-level mosaic trisomy 12. Case Report A 40-year-old woman underwent amniocentesis at 18 weeks of gestation because of?advanced maternal age, which revealed a karyotype of 47,XX,+12[5]/46,XX[24] consistent with 17.2% (5/29) mosaicism ...
ChernDepartmentPei-YinDepartmentLeeDepartmentDai-DyiDepartmentTownDepartmentWayseenDepartmentWangDepartmentWileyPrenatal DiagnosisChen CP, Chern SR, Chen LF, et al. Prenatal diagnosis of low-level mosaic trisomy 7 by amniocentesis. Prenat Diagn. 2005;25:1067-1069....