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Full-Text Articles in Life Sciences
Medical Genetics And Genomic Medicine In The United States. Part 2: Reproductive Genetics, Newborn Screening, Genetic Counseling, Training, And Registries, Debra S. Regier, Carlos Ferreira, Suzanne Hart, Donald Hadley, Maximilian Muenke
Medical Genetics And Genomic Medicine In The United States. Part 2: Reproductive Genetics, Newborn Screening, Genetic Counseling, Training, And Registries, Debra S. Regier, Carlos Ferreira, Suzanne Hart, Donald Hadley, Maximilian Muenke
Pediatrics Faculty Publications
eview of genetics in the United States with emphasis on the prenatal, metabolic, genetic counseling, and training aspects of the field.
Incidence Of X And Y Chromosomal Aneuploidy In A Large Child Bearing Population., Carole Samango-Sprouse, Eser Kırkızlar, Megan P Hall, Patrick Lawson, Zachary Demko, Susan M Zneimer, Kirsten J Curnow, Susan Gross, Andrea Gropman
Incidence Of X And Y Chromosomal Aneuploidy In A Large Child Bearing Population., Carole Samango-Sprouse, Eser Kırkızlar, Megan P Hall, Patrick Lawson, Zachary Demko, Susan M Zneimer, Kirsten J Curnow, Susan Gross, Andrea Gropman
Pediatrics Faculty Publications
BACKGROUND: X&Y chromosomal aneuploidies are among the most common human whole-chromosomal copy number changes, but the population-based incidence and prevalence in the child-bearing population is unclear.
METHODS: This retrospective analysis of prospectively collected data leveraged a routine non-invasive prenatal test (NIPT) using parental genotyping to estimate the population-based incidence of X&Y chromosome variations in this population referred for NIPT (generally due to advanced maternal age).
RESULTS: From 141,916 women and 29,336 men, 119 X&Y chromosomal abnormalities (prevalence: 1 in 1,439) were identified. Maternal findings include: 43 cases of 45,X (40 mosaic); 30 cases of 47,XXX (12 mosaic); 3 cases of …