Research Article

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Balanced translocation; Breakpoint; Chromosome 7; Genetic counseling; Male infertility

Balanced reciprocal translocations are associated with reproductive failure. Some reciprocal translocation carriers exhibit azoospermia or oligozoospermia, and an association exists between these chromosomal abnormalities and recurrent abortion. Previous reports have indicated the involvement of chromosome 7 translocations in male infertility and recurrent ... more

R.X. Wang; H.G. Zhang; Y. Pan; J.H. Zhu; F.G. Yue; L.T. Xue; R.Z. Liu; R.X. Wang; H.G. Zhang; Y. Pan; J.H. Zhu; F.G. Yue; L.T. Xue; R.Z. Liu
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NR5A2 has been implicated in processes as diverse as steroidogenesis, cellular proliferation, ovarian follicular development, ovulation, and fertility in mammals. However, data about the relationship between NR5A2 and prolificacy in mammals are lacking. In the present study, we identified and characterized NR5A2 of Hu sheep, and investigated the correlation ... more

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Balanced translocation; Breakpoint; Chromosome 1; Genetic counseling; Male infertility

Reciprocal translocation is closely associated with male infertility and recurrent miscarriages. Balanced reciprocal translocations associated with reproductive failures are predominantly observed on chromosome 1. Additionally, infertile male patients present a number of breakpoints throughout chromosome 1. A translocation breakpoint might interrupt the structure of an important gene, ... more

R.X. Wang; H.G. Zhang; Y. Pan; S. Chen; F.G. Yue; D.L. Zhu; R.Z. Liu; R.X. Wang; H.G. Zhang; Y. Pan; S. Chen; F.G. Yue; D.L. Zhu; R.Z. Liu
Amniocentesis; Balanced translocation; Genetic counseling; Giemsa banding (GTG banding)

Balanced translocation is a common structural chromosomal rearrangement in humans. Carriers can be phenotypically normal but have an increased risk of pregnancy loss, fetal death, and the transmission of chromosomal abnormalities to their offspring. Existing prenatal screening technologies and diagnostic procedures fail to detect balanced translocation, so genetic counseling for carriers ... more

H.G. Zhang; X.Y. Zhang; H.Y. Zhang; T. Tian; S.B. Xu; R.Z. Liu; H.G. Zhang; X.Y. Zhang; H.Y. Zhang; T. Tian; S.B. Xu; R.Z. Liu
Genetic counseling; Klinefelter syndrome; Multidisciplinary approach; Quality of life

Klinefelter syndrome (KS) is the most common genetic cause of male infertility. Widespread development in assisted reproductive technology has provided non-mosaic KS patients with the opportunity of having biological children. Testosterone replacement therapy and micro-dissection testicular sperm extraction are effective sperm retrieval techniques for KS patients. Despite the success of sperm ... more

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Amniocentesis; Chromosomal abnormality; Genetic counseling; Spontaneous abortion

The aim of this study was to evaluate the relationship between fetal karyotype and parental chromosomal abnormalities, and to provide a basis for clinical diagnosis and therapy in Northeast China. A total of 144 spontaneously aborted fetuses were analyzed by FISH to test for chromosome number and to recall couples for peripheral blood karyotype analysis. The rate of abnormal chorionic villus ... more

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Amniocentesis; Chromosomal abnormality; Genetic counseling; Prenatal diagnosis

The aims of this study were to demonstrate the clinical and cytogenetic results of amniocentesis (AS) cases in Northeast China, to compare the incidence of different kinds of chromosomal abnormalities, and to study the association between the detection rate of chromosomal abnormalities and different indications for prenatal diagnosis. Cytogenetic analysis was performed on long-term tissue ... more

N. An; L.L. Li; R.X. Wang; J.M. Yue; R.Z. Liu
Genetic counseling; Pericentric inversion; Reciprocal translocation; Recurrent spontaneous abortion; Robertsonian translocation

Recurrent spontaneous abortions (RSAs) occur in approximately 15 to 20% of all clinically recognizable pregnancies. Structural chromosome abnormalities result in increased risk of pregnancy loss. Parental chromosomal abnormalities are an important genetic cause of RSAs. Some cytogenetic investigations have been performed in various countries and regions to determine the pattern of ... more

H.T. Fan; M. Zhang; P. Zhan; X. Yang; W.J. Tian; R.W. Li; H.T. Fan; M. Zhang; P. Zhan; X. Yang; W.J. Tian; R.W. Li; H.T. Fan; M. Zhang; P. Zhan; X. Yang; W.J. Tian; R.W. Li
Azoospermia; Chromosome aberrations; Cytogenetic Analysis; Genetic counseling; Heterozygote; Humans; Live Birth; male; Oligospermia

Chromosomal abnormality is the most common genetic cause of infertility. Infertility, as a psychological problem, has received an increasing amount of attention. Psychological interventions have been shown to have beneficial effects on infertile patients with chromosomal abnormalities. The present study explored reproductive outcome of male carriers of chromosomal abnormalities, who accepted ... more

K.M. Guo; B. Wu; H.B. Wang; R.H. Tian
Abortion, Spontaneous; Azoospermia; Chromosome Breakpoints; Chromosomes, Human, Pair 4; Female; Genetic counseling; Heterozygote; Humans; male; Oligospermia; Pregnancy; Translocation, Genetic

Cytogenetic analysis remains a powerful and cost-effective technology, and has wide applicability in genetic counseling for infertile males. Chromosomal rearrangements are thought to be one of the major genetic factors that influence male infertility. Some carriers with balanced reciprocal translocation have been identified as having oligozoospermia or azoospermia, and there is an association ... more

H.G. Zhang; R.X. Wang; Y. Pan; J.H. Zhu; L.T. Xue; X. Yang; R.Z. Liu