46XY r(4)(p15-q35)核型胎儿的产前诊断及后续处理

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

作者信息

Sherer D M, Shah Y G, Wang N, Metlay L A, Woods J R

机构信息

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

出版信息

Am J Perinatol. 1991 Jan;8(1):53-5. doi: 10.1055/s-2007-999342.

DOI:10.1055/s-2007-999342

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.

摘要

妊娠29周时的胎儿超声检查显示，胎儿严重对称性生长受限，伴有小头畸形、眼距增宽和生殖器发育不全，脐带为双血管。对羊水细胞培养进行的G显带分析显示，在所分析的每个集落中，核型均为46, XY,r(4)(p15-q35)。据我们所知，这是首次报道的这种产前诊断，它辅助了该妊娠的临床管理。

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