NORD gratefully acknowledges M. Hassan Toufaily, MD, Postdoctoral Research Fellow, Massachusetts General Hospital and Brigham and Women's Hospital, for assistance in the preparation of this report.
Triploidy is a rare chromosomal abnormality. Triploidy is the presence of an additional set of chromosomes in the cell for a total of 69 chromosomes rather than the normal 46 chromosomes per cell. The extra set of chromosomes originates either from the father or the mother during fertilization. Infants with triploidy usually are miscarried early in the pregnancy. If the pregnancy continues to term, the infant dies within the first days of life. A few affected individuals have been reported to have survived to adulthood, but suffered from developmental delay, learning difficulties, seizures, hearing loss and other abnormalities. Those that survive have mosaic triploidy, meaning that some cells have the normal number of 46 chromosomes and other cells have 69 chromosomes per cell. Infants affected with complete triploidy suffer from growth restriction and multiple birth defects.
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