Background: Mosaicism of a normal cell population and an unbalanced autosomal chromosome rearrangement is rarely seen. If the abnormal cell line contributes to a minor part of soma, the phenotype is expected to be normal. Case Report: We report a 29-year-old woman who had balance chromosomal translocation of 46,XX,t(5;21) with a 2-year-old affected girl, characterized by mental retardation, dys...

background: genome instability is a main cause of chromosomal alterations in both somatic and germ cells when exposed to environmental, physical and chemical genotoxicants. germ cells especially spermatozoa are more vulnerable to suffering from dna damaging agents during spermatogenesis and also more potent in transmitting genome instability to next generation. methods: to investigate the effec...

The most common cause of pregnancy losses is chromosomal anomalies. Fetal chromosomal anomalies are found in 90% preembryonic losses, 50% first trimester abortions, 2/3 malformed embryos, and 1/3 malformed fetuses. Considering all pregnancy losses, the rate 50%...

Background: Dermatoglyphics are the dermal ridge configurations on the digits, palms and soles. Dermatoglyphic polymorphism results from the co-operation of genetic and environmental factors. The Dermatoglyphic analysis is a valuable completion of initial diagnosis of some syndromes genetically determined. Our objective was to assess dermatoglyphics study results against standard chromosomal an...

this report presents the cytogenetic findings (g -banded chromosomal analysis} in 383 cases referred for suspected chromosomal abnormalities because of abnormal clinical features. chromosomal aberrations were found in 63 116.5%) of these cases, free trisomy 21 (7%) being the most common abnormality , followed by 47, xxykaryotype (4%). the breakdown figures for each group is discussed in the text.

The distribution of accessible antigenic sites in the chromosomal protein high mobility group one (HMG-1) in Chironomus thummi polytene chromosomes is visualized by immunofluorescence. The results indicate that (a) HMG-1 is distributed in a distinct banding pattern along the entire length of the chromosomes; (b) the banding pattern obtained with fluorescent antibody does not strictly correspond...

AIM This study aims at evaluating the chromosomal abnormalities and deoxyribonucleic acid (DNA) damage in cases with primary amenorrhea by karyotyping and comet assay. STUDY DESIGN A total of 30 cases of primary amenorrhea were recruited. Secondary sexual characters were assessed by Tanner staging. Chromosomal analysis was performed by conventional phytohemagglutinin stimulated lymphocyte cel...