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[Postnatal diagnosis and prognosis of 2 cases of triploidy].

作者信息

Ben Hamouda H, Tfifha M, Elghezal H, Tlili Y, Soua H, Saad A, Sfar M T

机构信息

Unité de néonatalogie, service de pédiatrie, hôpital universitaire Tahar Sfar, Mahdia, Tunisia.

出版信息

Arch Pediatr. 2010 Jul;17(7):1078-82. doi: 10.1016/j.arcped.2010.03.009. Epub 2010 May 4.

Abstract

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 newborns, 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.

摘要

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