Journal of Pediatric Urology
Volume 5, Issue 4 , Pages 274-278 , August 2009

Accuracy of perinatal diagnosis of 45,X/46,XY mosaicism and electronic consultation of affected parents

Received 20 August 2008 ,Accepted 8 December 2008.

References 

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  2. Chang HJ, Clark RD, Bachman H. The phenotype of 45,X/46,XY mosaicism: an analysis of 92 prenatally diagnosed cases. Am J Hum Genet. 1990;46:156–167
  3. Louise Telvi L, Lebbar A, Del Pino A, Barbet JP, Chaussain JL. 45,X/46,XY mosaicism: report of 27 cases. Pediatrics. 1999;104:304–308
  4. Baker L, Wagner TH, Singer S, Bundorf K. Use of the internet and e-mail for health care information: results from a national survey. JAMA. 2003;289:2400–2406
  5. Patt MR, Houston TK, Jenckes MW, Sands DZ, Ford DE. Doctors who are using e-mail with their patients: a qualitative exploration. J Med Internet Res. 2003;5:e9
  6. Rosen P, Kwoh K. Patient–physician e-mail: an opportunity to transform pediatric health care. Pediatrics. 2007;12:701–706
  7. Hsu LYF. Prenatal diagnosis of chromosomal abnormalities through amniocentesis. In:  Milunsky A editors. Genetic disorders and the fetus: diagnosis, prevention, and treatment. Baltimore, MD and London, UK: The Johns Hopkins University Press; 1998;p. 179–248
  8. Reddy KS, Sulcova V. Pathogenetics of 45,X/46,XY gonadal mosaicism. Cytogenet Cell Genet. 1998;82:52–57
  9. Huang B, Thangavelu M, Bhatt S, Sandlin CJ, Wang S. Prenatal diagnosis of 45,X and 45,X mosaicism: the need for thorough cytogenetic and clinical evaluations. Prenat Diagn. 2002;22:105–110
  10. Robinson A, Linden MG, Bender BG. Prenatal diagnosis of sex chromosome abnormalities. In:  Milunsky A editors. Genetic disorders and the fetus: diagnosis, prevention, and treatment. Baltimore, MD and London, UK: The Johns Hopkins University Press; 1998;p. 249–285
  11. Lazebnik N, Filkins KA, Jackson CL, Lin KB, Doshi NN, Hogge WA. 45,X/46,XY mosaicism: the role of ultrasound in prenatal diagnosis and counseling. Ultrasound Obstet Gynecol. 1996;8:325–328
  12. Koeberl DD, McGillivray B, Sybert VP. Prenatal diagnosis of 45,X/46,XX Mosaicism and 45,X: implications for postnatal outcome. Am J Hum Genet. 1995;57:661–666

PII: S1477-5131(08)00448-8

doi: 10.1016/j.jpurol.2008.12.002

Journal of Pediatric Urology
Volume 5, Issue 4 , Pages 274-278 , August 2009

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