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
    7 Citations
    A novel 47.2 Mb duplication on chromosomal bands Xq21.1-25 associated with mental retardation.
    • 7
    • Highly Influenced

    References

    SHOWING 1-7 OF 7 REFERENCES
    Xq chromosome duplication in males: Clinical, cytogenetic and array CGH characterization of a new case and review
    • 25
    • Highly Influential
    Prader–Willi syndrome phenocopy due to duplication of Xq21.1–q21.31, with array CGH of the critical region
    • 19
    • Highly Influential
    Inherited inverted duplication of X chromosome in a male: report of a patient and review of the literature.
    • 23
    A New Chromosome X Exon-Specific Microarray Platform for Screening of Patients with X-Linked Disorders
    • 4
    • Highly Influential
    Prenatal diagnosis of dup(X) (q13q22) in CVS
    • Clin. Genet
    • 1991