We describe a 4﹜ear﹐ld boy with mosaic trisomy 22 from healthy parents and no family history of any genetic disorders in the pedigree. Method and Results The patient had determined dysmorphic clinical features including facial asymmetry, cleft palate, gastroenteritis, hydronephrosis, developmental ...
The fetus had a large cystic hygroma and associated hydrops. Amniocentesis performed revealed mosaic trisomy 22. The pregnancy was terminated. The prenatal sonographic findings are presented and previously reported, prenatally diagnosed, trisomy 22 cases are reviewed.年份: 2005 ...
Mosaic trisomy 21 accounts for 2–4% of Down's syndrome cases, which are distinct from complete trisomy in that the former can have less severe intellectual and developmental manifestations [24]. Mosaic Turner's syndrome, also known as mosaic X loss, also manifests in a less severe phenotype...
(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 ...
Biopsied TE cells were subjected to WGA with a Pre-implantation Genetic Screening for Aneuploidy Kit (Berry Genomics Corp., Beijing, China) along with a no-cell reaction serving as the blank control, normal diploids as the negative control, and trisomy 21 as the positive control. A total of...
We report two patients with mosaic trisomy ring 20. The first patient was a 16 yo referred for possible Cohen syndrome because of obesity, learning disabilities and speech delay. Additionally, he had a history of Tetralogy of Fallot, myopia, small posterior subcapsular cataracts and dysmophic ...
Low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with a negative NIPT result, cytogenetic discrepancy in various tissues, perinatal p... The peripheral blood had a karyotype of 47,XX,+21[1]/46,XX [39], and FISH analysis on buccal mucosal cells revealed 8.4% (7/83 ...
Original research article © American College of Medical Genetics and Genomics Mosaic trisomy 16: what are the obstetric and long-term childhood outcomes? Teresa N. Sparks, MD1,2, Kao Thao, BA1 and Mary E. Norton, MD1,2 Purpose: To evaluate obstetric and neonatal outcomes ...
Pitfall: amniocentesis fails to detect mosaic trisomy 8 in a male newborn. Prenat Diagn 1994;14(7):651-2.Schneider M, Klein-Vogler U, Tomiuk J, Schliephacke M, Leipoldt M, Enders H. 1994. Pitfall: amniocentesis fails to detect mosaic trisomy 8 in a male newborn. Prenat Diagn 14: ...
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....