Research Article

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12/21/2011
Chromosome abnormalities; G-banding karyotype analysis; Klinefelter syndrome; Primed in situ labeling

Primed in situ labeling (PRINS) technique is an alternative to in situ hybridization for rapid chromosome screening. We employed triple-color PRINS technique to detect chromosomal abnormalities in Klinefelter syndrome patients diagnosed by G-banding karyotype analysis. Among 1034 infertile male patients, 134 were found to be cytogenetically abnormal, including 70 with ... more

J.L. Gao; X.P. Ding; D.S. Liu; Y.J. Zhu
06/29/2010
AZF region; Azospermia; Klinefelter syndrome

We looked for a possible association between Klinefelter syndrome (KFS) and microdeletions in the Y chromosome in Turkish KFS patients. We examined the frequency of KFS in male patients with proven non-obstructive azoospermia and the types of Y chromosome microdeletions in these KFS patients. Fifty azoospermic patients and 50 fertile men were included in this study. KFS was found in 14 ... more

C. Ceylan; G.G. Ceylan; T.A. Serel
08/03/2015
Chronic obstructive pulmonary disease; Cost effectiveness; General practitioner; Quality of life; Quality-adjusted life years

We performed a 1-year cluster-randomized field trial to assess the effect of standardized management of chronic obstructive pulmonary disease (COPD) on lung function and quality of life (QOL) measures in patients in China. We used the Global Initiative for Chronic Obstructive Lung Disease (GOLD) treatment guidelines and assessed indexes including pulmonary function, QOL, quality-adjusted ... more

Y.Q. Jiang; Y.X. Zhu; X.L. Chen; X. Xu; F. Li; H.J. Fu; C.Y. Shen; Y.Y. Lu; Q.J. Zhuang; G. Xu; Y.Y. Cai; Y. Zhang; S.S. Liu; M.Y. Zhu; S.H. Li
11/26/2015
AZF microdeletions; Klinefelter syndrome; Male infertility

We investigated azoospermia region microdeletions in male infertility patients with Klinefelter syndrome (KFS), as well as the association between azoospermia symptoms in patients with KFS and Y chromosome microdeletion polymorphisms. A total of 111 cases with male infertility confirmed to have KFS (47, XXY) and 94 fertile men were included in this study. Peripheral blood was drawn and ... more

L.X. Li; H.Y. Dai; X.P. Ding; Y.P. Zhang; X.H. Zhang; H.Y. Ren; Z.Y. Chen
10/17/2016
Bipolar disorder; Klinefelter syndrome; Sex chromosomal disorder

Klinefelter syndrome (KS) is the most common sex chromosomal disorder with an estimated prevalence of 1 in 500-1000. Increased incidences of anxiety, depression, substance abuse, psychotic and behavioral disorders, and sexual disorders have been reported in patients with KS. The aim of this case study was to report a case of a man with untreated KS who was also ... more

H. Delavenne; J.M. Khoury; F. Thibaut; F.D. Garcia
09/27/2017
Down syndrome; Heart Defects, Congenital; Humans; Infant; Karyotype; Klinefelter syndrome; male

Double aneuploidy is considered a rare phenomenon. Herein, we describe a case of double aneuploidy 48,XXY,+21 in a neonate with congenital heart defects. The 28-day-old neonate male (23-year-old mother and 24-year-old father) was admitted to a neonatal intensive care unit owing to congenital heart disease. Echocardiography showed a complete atrioventricular septal defect with Rastelli type B ... more

M.A. Rodrigues; L.F. Morgade; L.F.A. Dias; R.V. Moreira; P.D. Maia; A.F.H. Sales; P.D. Ribeiro
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
12/11/2015
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

N. An; L.L. Li; X.Y. Zhang; W.T. Sun; M.H. Liu; R.Z. Liu
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
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

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