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

doi:10.1055/s-2007-999342

American Journal of Perinatology, Inhaltsverzeichnis

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

ORIGINAL ARTICLE

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

Abstract

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.

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