Research Article

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12/02/2015
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
12/08/2015
Azoospermia; Chromosomal abnormality; Male factor infertility; Oligozoospermia; Recurrent spontaneous abortion

Chromosomal abnormality is the most common genetic cause of male infertility, particularly in cases of azoospermia, oligozoospermia, and recurrent spontaneous abortion. Chromosomal rearrangement may interrupt an important gene or exert position effects. The functionality of genes at specific breakpoints, perhaps with a specific role in spermatogenesis, may be altered by such ... more

M. Zhang; H.T. Fan; Q.S. Zhang; X.Y. Wang; X. Yang; W.J. Tian; R.W. Li
08/04/2009
Azoospermia; Chromosomal abnormality; Male infertility; Severe oligozoospermia; Y chromosome microdeletion

Infertility is defined as the inability to conceive a child after one year of regular unprotected intercourse; it is a major health problem affecting about 10-15% of all couples. Infertility is due to a male factor in approximately 50% of cases. The human Y chromosome contains genes necessary for gonadal differentiation into a testis and genes for complete spermatogenesis. We examined the ... more

G.G. Ceylan; C. Ceylan; H. Elyas
03/13/2013
Balanced translocation; Chromosomal abnormality; Mosaicism; X-monosomy

Turner syndrome (TS) is a chronic disease related to haploinsufficiency of genes that are normally expressed in both X chromosomes in patients with female phenotype that is associated with a wide range of somatic malformations. We made detailed cytogenetic and clinical analysis of 65 patients with TS from the region of Recife, Brazil, to determine the effects of different chromosome ... more

A.V.S. Bispo; L.Odos Santos; P. Burégio-Frota; M.B. Galdino; A.R. Duarte; G.F. Leal; J. Araújo; B. Gomes; E.M. Soares-Ventura; M.T.C. Muniz; N. Santos
08/24/2010
Karyotype; Marker chromosome; Small supernumerary marker chromosomes; Spontaneous abortion

We report a phenotypically normal couple with repeated spontaneous abortions and without other clinical features. Clinical, hematological, biochemical, and endocrinological aspects of the couple did not reveal any abnormalities. The karyotype of the wife was normal (46,XX), while the husband was found to have an abnormal karyotype, 47,XY,+der(22)mat. The marker chromosome was familial and non- ... more

M. Balkan; H. İsi; H. İsi; A. Gedik; M. Erdemoğlu; T. Budak
08/19/2016
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
09/10/2015
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

M. Zhang; H.T. Fan; H.S. Zheng; Q.S. Zhang; S.Q. Feng; R.W. Li
12/29/2015
Balanced translocation; Genetic counseling; Reproductive performance; Sperm count

Balanced chromosomal translocations in men can cause failure of spermatogenesis owing to meiotic impairment. Male carriers may exhibit normozoospermia, although clinical manifestations can include oligozoospermia or azoospermia, oligozoospermia or normozoospermia. Here, we reported the characteristics of balanced reciprocal translocations in men from northeastern China, and explored the ... more

H.G. Zhang; R.X. Wang; L.L. Li; W.T. Sun; H.Y. Zhang; R.Z. Liu
01/22/2016
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
10/17/2016
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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