A prenatally ascertained, maternally inherited 14.8 Mb duplication of chromosomal bands Xq13.2-q21.31 associated with multiple congenital abnormalities in a male fetus.

@article{Sismani2013APA,
  title={A prenatally ascertained, maternally inherited 14.8 Mb duplication of chromosomal bands Xq13.2-q21.31 associated with multiple congenital abnormalities in a male fetus.},
  author={C. Sismani and J. Donoghue and A. Alexandrou and M. Karkaletsi and S. Christopoulou and A. Konstantinidou and P. Livanos and P. Patsalis and V. Velissariou},
  journal={Gene},
  year={2013},
  volume={530 1},
  pages={
          138-42
        }
}
  • C. Sismani, J. Donoghue, +6 authors V. Velissariou
  • Published 2013
  • Biology, Medicine
  • Gene
    • Duplications of the X chromosome are rare cytogenetic findings, and have been associated with an abnormal phenotype in the male offspring of apparently normal or near normal female carriers. We report on the prenatal diagnosis of a duplication on the long arm of chromosome X from chromosomal band Xq13.2 to q21.31 in a male fetus with increased nuchal translucency in the first trimester and polyhydramnios at 22 weeks of gestation. Amniocentesis was undertaken and cytogenetic analysis revealed… CONTINUE READING
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