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From cytogenetics to cytogenomics: a new era in the diagnosis of chromosomal abnormalities in domestic animals.
J Appl Genet
January 2025
Department of Genetics and Animal Breeding, Poznan University of Life Sciences, Poznan, Poland.
Identification of chromosomal abnormalities is an important issue in animal breeding and veterinary medicine. Routine cytogenetic diagnosis of domestic animals began in the 1960s with the aim of identifying carriers of centric fusion between chromosome 1 and 29 in cattle. In the 1970s, chromosome banding techniques were introduced, and in the 1980s, the first cytogenomic techniques, based on the development of locus- and chromosome-specific probes, were used.
View Article and Find Full Text PDFObservations on a Tracheobronchial Cast From a Newborn With Trisomy 13.
Pediatr Pulmonol
January 2025
Oldham Associates, LLC, Goochland, Virginia, USA.
A rare mosaic trisomy 22 syndrome in a 7-year-old boy: rare case report.
Sudan J Paediatr
January 2024
Elite Center for Genetics Diagnosis, Khartoum, Sudan.
Trisomy 22 is a rare autosomal constitutional chromosomal disorder with high survival incompatibility being the third most frequent trisomy in spontaneous abortions and accounting for 10%-15% of all cases. Mosaic trisomy 22 is a less severe variant of the disorder associated with mild phenotype and longer lifespan compared to cases with complete trisomy 22. To date, there have only been 25 reported cases of trisomy 22 worldwide.
View Article and Find Full Text PDFImpact of a new image enhancement technology on the nuchal translucency thickness.
Arch Gynecol Obstet
January 2025
Department of Obstetrics and Gynaecology, University Hospital Tübingen, University of Tübingen, Calwerstrasse 7, 72076, Tübingen, Germany.
Objective: To examine the impact of a new image enhancement technique on the distribution of NT measurements.
Methods: In this retrospective study, nuchal translucency (NT) images that were taken with the GE Voluson E22 ultrasound machine between May and September 2024 were collected. One operator took manual and automated NT measurements in an NT image without radiant enhancement mode followed by automated measurements in NT images with minimum, medium and maximum radiant mode.
Making Sense of a Prenatal Detection of Trisomy 16 Mosaicism in the Placenta: A Qualitative Study of Pregnant Women's Decision Making.
Prenat Diagn
January 2025
Department of Clinical Medicine, Center for Fetal Diagnostics, Aarhus University, Aarhus, Denmark.
Objective: Prenatal detection of Trisomy 16 mosaicism (MosT16) in a Chorionic Villus Sample (CVS) results may cause significant anxiety for expectant parents due to the risk of fetal malformation and fetal growth restriction (FGR). The aim of this study was to investigate the experiences and decision-making of women receiving a MosT16 results during pregnancy.
Methods: In-depth, semi-structured interviews with eight Danish women who received a MosT16 CVS results.
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