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Am J Perinatol 1991; 8(1): 53-55
DOI: 10.1055/s-2007-999342
ORIGINAL ARTICLE

© 1991 by Thieme Medical Publishers, Inc.

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

David M. Sherer, Yogesh G. Shah, Nancy Wang, Leon A. Metlay, James R. Woods Jr. 
  • Division of Maternal-Fetal Medicine, Departments of Obstetrics and Gynecology, Pediatric Genetics, and Pathology, Strong Memorial Hospital, The University of Rochester School of Medicine and Dentistry, Rochester, New York
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Publication Date:
04 March 2008 (online)

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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.