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Am J Perinatol. 1991 Jan;8(1):53-5.

Prenatal diagnosis and subsequent management of a fetus with a 46XY r(4)(p15-q35) karyotype.

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  • 1Department of Obstetrics and Gynecology, Strong Memorial Hospital, University of Rochester School of Medicine and Dentistry, New York 14642.

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.

[PubMed - indexed for MEDLINE]
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