45,X/47,XYY mosaicism: Clinical discrepancy between prenatally and postnatally diagnosed cases

M. J. Pettenati*, M. Wheeler, D. J. Bartlett, I. Subrt, N. Rao, R. L. Kroovand, B. K. Burton, S. Kahler, H. K. Park, P. Cosper, D. R. Kelly, J. D. Ranells

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

15 Scopus citations

Abstract

45,X/47,XYY mosaicism is a rare chromosomal disorder with clinical information limited to 11 postnatal cases in the literature and with uncertainty regarding prenatal prediction of phenotype and prognosis. We report on 7 new cases of 45,X/47,XYY mosaicism, three detected prenatally and 4 diagnosed postnatally. A clinical comparison of the cases of 45,X/47,XYY mosaicism is presented together with a literature review.

Original languageEnglish (US)
Pages (from-to)42-47
Number of pages6
JournalAmerican Journal of Medical Genetics
Volume39
Issue number1
DOIs
StatePublished - Jan 1 1991

Keywords

  • chromosomal disorder
  • prenatal diagnosis
  • sex chromosome mosaicism

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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