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非嵌合型克兰费尔特综合征患者及其染色体9倒位妻子通过卵胞浆内单精子注射治疗获得双胎妊娠

Twin Pregnancy Obtention of Patient with Nonmosaic Klinefelter's Syndrome and His Wife with Chromosome 9 Inversion by ICSI Treatment.

作者信息

Zhang Changjun, Peng Haiying, Hu Yueyue

机构信息

The Reproductive Research Center, Renmin Hospital, Hubei university of Medicine, Shiyan, China.

出版信息

Int J Fertil Steril. 2013 Jul;7(2):142-6. Epub 2013 Jul 31.

Abstract

A 24-year-old man was diagnosed with klinefelter's syndrome (KS) and his wife was found to have an inversion on chromosome 9-46, XX, inv (9) (p11q21)- because of infertility. Intracytoplasmic sperm injection (ICSI) was performed for fertilization after fluorescence in-situ hybridization (FISH) was used to analyze the aneuploidy rate of the X and Y chromosomes of the ejaculated sperms of the patient, and 99 sperms were haploid among 100 sperms that were to be analyzed. A twin pregnancy was achieved. The chromosomes of the two fetuses were identified as 46, XY and 46, XY, inv (9)(p11q21) after a prenatal diagnosis at 18 weeks gestation. Two healthy twins were born through caesarean section at 32 weeks gestation because of premature rupture of membranes (PROM).

摘要

一名24岁男性被诊断为克兰费尔特综合征(KS),其妻子因不育被发现存在9号染色体倒位——46,XX,inv(9)(p11q21)。在使用荧光原位杂交(FISH)分析该患者射出精子的X和Y染色体非整倍体率后,进行了卵胞浆内单精子注射(ICSI)受精,在100个待分析的精子中有99个为单倍体。成功实现了双胎妊娠。在妊娠18周进行产前诊断后,两个胎儿的染色体被鉴定为46,XY和46,XY,inv(9)(p11q21)。由于胎膜早破(PROM),在妊娠32周时通过剖宫产分娩出两名健康双胞胎。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5475/3850336/7932afa050a9/Int-J-Fertil-Steril-7-142-g01.jpg

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