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. Str...

Mental retardation is a common problem with major implications for a nation’s health, education and community services. The causes of mental retardation have been found to have a definite etiological basis, which may be biochemical, chromosomal, Mendelian genetic disorders, or due to environmental effects such as toxins, infections, trauma or perinatal anoxia. The underlying causes remain unkno...

Chromosomal studies of bone-marrow cells have been reported on 30 patients with erythroleukaemia (Table I). Some of these reports give only meagre cytogenetic details, but there was an increased degree of polyploidy in at least 9 of the patients, significant aneuploidy in 12, and structural abnormalities in 11. Some patients showed more than one of these features, and only 8 patients had normal...

Introduction. The coexistence of Down and Turner syndromes due to double chromosome aneuploidy is very rare; it is even more rare to find the presence of a double monoclonal chromosomal abnormality. Objective. To report a unique case of double monoclonal chromosomal abnormality with trisomy of chromosome 21 and an X ring chromosome in all cells studied; no previous report has been found. Case R...

Main Outcome: 134 (27 %) patients had abnormal karyotype, 97 (19 %) patients had numerical abnormalities and 37 (7 %) had structural chromosomal abnormalities. The majority of patients with numerical abnormalities (66 %) were Down Syndrome or trisomy 21, 4 % were having trisomy 13, and 4 % were having trisomy 18. Cases of X chromosome abnormalities were found in 13 % of the abnormal causes, whi...

BACKGROUND Biological variations in and the heterogeneity of gastrointestinal stromal tumors (GISTs) are well known, but chromosomal numerical abnormality (CNA) has not been fully examined especially in this context. The aim of this study is to test CNA as a possible biological predictor of biological behavior of GISTs. METHOD We applied microwave-assisted FISH protocol to pathological archiv...

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 ch...