Chromosomal abnormality

Genetic screening and evaluation for chromosomal abnormalities of infertile males in Jilin Province, China

M. Zhang, Fan, H. - T., Zhang, Q. - S., Wang, X. - Y., Yang, X., Tian, W. - J., and Li, R. - W., Genetic screening and evaluation for chromosomal abnormalities of infertile males in Jilin Province, China, vol. 14, pp. 16178-16184, 2015.

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 rearrangements. Structural chromosome abnormalities are furthermore known to increase the risk of pregnancy loss.

Result and pedigree analysis of spontaneously abortion villus chromosome detecting by FISH

N. An, Li, L. - L., Zhang, X. - Y., Sun, W. - T., Liu, M. - H., and Liu, R. - Z., Result and pedigree analysis of spontaneously abortion villus chromosome detecting by FISH, vol. 14, pp. 16662-16666, 2015.

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 chromosomes was 35.42%. Villus chromosome abnormality rate of the first spontaneous abortion and repeated abortions were 40.54 and 33.64%, respectively (P < 0.05).

Effect of chromosome constitution variations on the expression of Turner phenotype

A. V. S. Bispo, Santos, L. Odos, Burégio-Frota, P., Galdino, M. B., Duarte, A. R., Leal, G. F., Araújo, J., Gomes, B., Soares-Ventura, E. M., Muniz, M. T. C., and Santos, N., Effect of chromosome constitution variations on the expression of Turner phenotype, vol. 12, pp. 4243-4250, 2013.

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 constitutions on expression of the TS phenotype. Overall, patients with X-monosomy exhibited a tendency to have more severe phenotypes with higher morbidity, showing its importance in TS prognosis.

Genetic anomalies in patients with severe oligozoospermia and azoospermia in eastern Turkey: a prospective study

G. G. Ceylan, Ceylan, C., and Elyas, H., Genetic anomalies in patients with severe oligozoospermia and azoospermia in eastern Turkey: a prospective study, vol. 8, pp. 915-922, 2009.

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 frequency and type of both chromosomal abnormalities and Y chromosome microdeletions in 90 patients with severe male factor infertility and 75 fertile control men.

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