We performed a cytogenetic study on 140 nonpolymalformed patients with mental retardation of clinically undefined origin, using a high resolution banding technique, to determine how much chromosome abnormalities contribute to the etiology of this condition. A total of 15 patients (10.7%) were found to have autosomal or sex chromosomal abnormalities. Autosomal abnormalities included partial mono...

We report a case of Robertsonian translocation associated with azoospermia. The literature is reviewed, and testicular histology and hormone condition are discussed. Isoji Sasagawa, MD, Department of Urology, Saiseikai, Fukushima General Hospital, 4-15 Sakuragi-cho, Fukushima-shi, Fukushima 960 (Japan) Introduction It is well-known that sex chromosome abnormalities are related to male infertili...

The meiotic chromosomes of 3 bulls carrying the 1/29 Robertsonian translocation have been studied. The abnormal chromosome was found in the spermatogonial mitotic divisions of the 3 animals studied. At the diacinesis stage, the trivalent presented several types of association. Chromosome counting of metaphases II showed the presence of 30.2 p. 100 of unbalanced karyotype cells due to excess or ...

the most significant complication of pregnancy is recurrent miscarriage. numerous factors have been described as associations with recurrent wastage such as: uterine abnormalities, immunological factors, endocrinologic imbalance and chromosomal defects. cytogenetic evaluation of couples with recurrent pregnancy losses is performed on the basis of g-banding technique only after other possible et...

9 Introduction Lejeune et al, in 1959 were the first to demonstrate that Down syndrome was due to an abnormality of an extra chromosome in the G group. This was subsequently confirmed to be chromosome 21. Other studies followed demonstrating that the characteristic appearance of Down syndrome could also be due to other aberrations involving chromosome 21. These included Robertsonian translocati...

The constitutional t(11;22) is the most frequent recurrent non-Robertsonian translocation in humans, the breakpoints of which are located within palindromic AT-rich repeats on 11q23 and 22q11 (PATRR11 and PATRR22). Genetic variation of the PATRR11 was found to affect de novo t(11;22) translocation frequency in sperm derived from normal healthy males, suggesting the hypothesis that polymorphisms...