Previous reports of dup (12p) and dup(12q) are reviewed. To our knowledge this is the first report of a “complete” trisomy 12 in a liveborn individual.doi:10.1002/ajmg.1320140308Dr. Shivanand R. PatilDepartment of PediatricsE. Peter Bosch...
when at the stage of a zygote, likely carried the derivative chromosome 12 from this translocation, and a postzygotic mitotic recombination event occurred between the normal paternal chromosome 12 and maternal derivative chromosome 12 to “correct” the partial 3p trisomy and partial deletion of 12p....
1.Mosaic Trisomy 12 Associated with Overgrowth Detected in Fibroblast Cell Lines and spring 机译:与成纤维细胞系中检测到的过度生长相关的马赛克三兆癣12 Gasparini Yanca ,Montenegro Marilia M. ,Novo-Filho Gil M. - Cytogenetic and genome research - 2019 2.Prenatal diagnosis of mosaic trisomy 12...
(fibroblasts); mosaic tetrasomy 12p (fibroblasts); mosaic apparently balanced 15;22 translocation (peripheral blood); and mosaic trisomy 18 (peripheral blood... VP Sybert,RA Pagon,MD Michael Donlan,... - 《Journal of Pediatrics》 被引量: 149发表: 1990年 Chromosomal Abnormalities Associated With ...
For autosomes, a copy number of two is indicative of a disomy (considered normal/euploid), while copy numbers of one and three are indicative of monosomy and trisomy, respectively (considered abnormal/aneuploid). In such cases, the clinical decision to deselect aneuploid embryos for transfer is ...
Trisomy 12 mosaicism was found in a 36‐year‐old woman with minor anomalies, neuromuscular abnormalities, and moderate mental retardation. Trisomy 12 was present in 13% of the lymphocytes but not in skin fibroblasts. Previous reports of dup (12p) and dup(12q) are reviewed. To our knowledge...
Trisomy 12 mosaicism was found in a 36-year-old woman with minor anomalies, neuromuscular abnormalities, and moderate mental retardation. Trisomy 12 was present in 13% of the lymphocytes but not in skin fibroblasts. Previous reports of dup (12p) and dup(12q) are reviewed. To our knowledge ...
duplication 12p13.33-p11.1mosaic trisomy 12pthe chromosomal region 12pter-12q11Pallister-Killian syndrome (PKS) is a rare inherited disease with multiple congenital anomalies, profound intellectual disability, and the presence in the karyotype of sSMC - i(12)(p10). The frequ...
advanced maternal age, which revealed a karyotype of 47,XX,+12[5]/46,XX[24] consistent with 17.2% (5/29) mosaicism for trisomy 12. Repeat amniocentesis performed at 21 weeks of gestation revealed a karyotype of 47,XX,+12[4]/46,XX[6] consistent with 40% (4/10) mosaicism for ...
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 for ...