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Prenatal Diagnosis and Subsequent Management of a Fetus with a 46XY r(4)(p15-q35) Karyotype

  • D. M. Sherer
  • , Y. G. Shah
  • , N. Wang
  • , L. A. Metlay
  • , J. R. Woods
  • University of Rochester

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

Abstract

Fetal ultrasound examination at 29 weeks' gestation revealed a severely symmetrically growth-retarded fetus with microcephaly, hypertelorism, and hypoplastic genitalia with a two-vessel umbilical cord. G-banding analysis on amniotic cell cultures revealed a 46,XY,r (4) (p15-q35) karyotype in each of the colonies analyzed. This prenatal diagnosis, to our knowledge the first reported, assisted clinical management of this pregnancy.

Original languageEnglish
Pages (from-to)53-55
Number of pages3
JournalAmerican Journal of Perinatology
Volume8
Issue number1
DOIs
StatePublished - Jan 1991

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