科研之友
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摘要
Triploidy is one of the most common chromosomal aberrations in spontaneous abortions characterized by a 69-chromosome karyotype. This chromosome abnormality is rare in live-born children. Prevalence is lower than 1/50,000. We report on two premature new-borns, male and female, born at 35 and 37 weeks of gestation, who presented with severe intrauterine growth retardation, facial dysmorphy, myelomeningocele, and syndactyly. They died during the first hours of life due to respiratory distress syndrome. Analysis of the karyotype showed a homogeneous triploidy on all mitoses: 69 XXY and 69 XXX. The parental origin of the triploidy can have specific effects in the fetal phenotype and the development of the placenta.
- 出版日期2010-7
