Research Article

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08/19/2016

Balanced reciprocal translocation at amniocentesis: cytogenetic detection and implications for genetic counseling

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
10/17/2016

Chromosome 7 translocation breakpoints in male carriers: clinical features and implications for genetic counseling

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
04/26/2016

Association between C677T and A1298C polymorphisms of the MTHFR gene and risk of male infertility: a meta-analysis

A1298C; C677T; Male infertility; Meta-analysis; MTHFR; Polymorphisms

Published studies on the association between the C677T and A1298C polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) gene and male infertility risk are controversial. To obtain a more precise evaluation, we performed a meta-analysis based on published case-control studies. We conducted an electronic search of PubMed, EMBASE, the Cochrane Library, the Web of Science ... more

Y. Yang; Y.Y. Luo; S. Wu; Y.D. Tang; X.D. Rao; L. Xiong; M. Tan; M.Z. Deng; H. Liu; Y. Yang; Y.Y. Luo; S. Wu; Y.D. Tang; X.D. Rao; L. Xiong; M. Tan; M.Z. Deng; H. Liu; Y. Yang; Y.Y. Luo; S. Wu; Y.D. Tang; X.D. Rao; L. Xiong; M. Tan; M.Z. Deng; H. Liu
06/03/2016

Correlation between Y chromosome microdeletion and male infertility

AZF; Azoospermia; Male infertility; Microdeletion; Y chromosome

Dyszoospermia due to genetic factors is the leading cause of male infertility. To explore the correlation between azoospermia factor (AZF) microdeletion of the Y chromosome and male infertility, we evaluated AZF microdeletion on the long arm of the Y chromosome in 166 infertile males and 50 fertile males using multiplex polymerase chain reactions amplification and gel electrophoresis. The ... more

X.G. Liu; H.Y. Hu; Y.H. Guo; Y.P. Sun; X.G. Liu; H.Y. Hu; Y.H. Guo; Y.P. Sun
10/27/2015

A framework radiation hybrid map of buffalo chromosome 1 ordering scaffolds from buffalo genome sequence assembly

Bubalus bubalis; Chromosome 1; Comparative map; Radiation hybrid mapping

River buffalo chromosome 1 (BBU1) is a sub-metacentric chromosome homologous to bovine chromosomes 1 and 27. In this study, we constructed a new framework radiation hybrid (RH) map from BBU1 using BBURH5000 panel adding nine new genes (ADRB3, ATP2C1, COPB2, CRYGS, P2RY1, SLC5A3, SLC20A2, SST, and ZDHHC2 ... more

N.B. Stafuzza; B.C.M. Naressi; E. Yang; J.J. Cai; M.E.J. Amaral-Trusty
12/29/2015

Male carriers of balanced reciprocal translocations in Northeast China: sperm count, reproductive performance, and genetic counseling

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