Robertsonian translocations (RBT) are associated with an increased risk of aneuploidy. Single RBT carriers are the most common balanced rearrangement among the carrier couples with the history of spontaneous abortion. However, double Robertsonian translocations (DRBT), in which two balanced RBT occur simultaneously, are an extremely rare condition. A 9-year-old mentally normal girl with mu...

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...

Chromosomal abnormalities are major causes of infertility, miscarriage and birth of handicapped progeny. In human live births, the prevalence of a chromosome aberration is ?0.5% and, of these, 0.1–0.3% correspond to structural chromosome rearrangements such as translocations, inversions, insertions and deletions .Our proband is an infant who had died 4 hours after birth due to a variety of abno...

pericentric inversions of chromosome 9 are among the most frequent chromosomal rearrangement in human. a few cytogeneticists consider inversions of chromosome 9 as a normal variant. however, many reports in the recent literature link pericentric inversions of chromosome 9 with infertility, recurrent abortions, and a number of other abnormal conditions. we report a case of homozygosity pericentr...

essential thrombocythemia is a rare myeloproliferative disorder in pediatrics. this myeloproliferative disorder is charactherized by thrombocytosis and hyperplasia of megakaryocytes in the bone marrow. other cell lines are not involved.jak2v617fmutations has been identified in approximately half the patients with this disorder. we describe a 12-year-old boy with essential throbocythemia. the pa...

BACKGROUND Approximately 205 million pregnancies occur each year in the worldwide. On the other hand, Spontaneous abortion has been reported in 15-20% of all diagnosed pregnancies. The most common cause of spontaneous abortion is chromosomal abnormalities of the embryo. Robertsonian translocation carriers specially 21-14 are the most common balanced rearrangement among the carrier couples with ...

Estimates of the number of chromosomal breakpoints that have arisen (e.g., by translocation and inversion) in the evolutionary past between two species and their common ancestor can be made by comparing map positions of marker loci. Statistical methods for doing so are based on a random-breakage model of chromosomal rearrangement. The model treats all modes of chromosome rearrangement alike, an...