Fourteen patients with acute nonlymphocytic leukemia (ANLL) or dysmyelopoietic syndromes were found to have abnormalities involving the long arm of chromosome 3. In eight patients, the structural rearrangements involved both bands 3q21 and 3q26 and included t(3;3) (four patients), inv(3) (three patients), and ins(5;3) (one patient). Before treatment, seven of these eight patients had platelet c...

Phylogenetic analysis of amplified fragment length polymorphisms (AFLP) was used to infer patterns of morphologic and chromosomal evolution in an eastern North American group of sedges (ENA clade I of Carex sect. Ovales). Distance analyses of AFLP data recover a tree that is topologically congruent with previous phylogenetic estimates based on nuclear ribosomal DNA (nrDNA) sequences and provide...

Phylogenetic analysis of amplified fragment length polymorphisms (AFLP) was used to infer patterns of morphologic and chromosomal evolution in an eastern North American group of sedges (ENA clade I of Carex sect. Ovales). Distance analyses of AFLP data recover a tree that is topologically congruent with previous phylogenetic estimates based on nuclear ribosomal DNA (nrDNA) sequences and provide...

Aneuploidy, a state in which the chromosome number deviates from a multiple of the haploid count, significantly impacts human health. The phenotypic consequences of aneuploidy are believed to arise from gene expression changes associated with the altered copy number of genes on the aneuploid chromosomes. To dissect the mechanisms underlying altered gene expression in aneuploids, we used RNA-seq...

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...

BACKGROUND Monosomy is defined as the presence of only one chromosome instead of two in humans. Partial monosomy occurs when only a portion of the chromosome is present in a single copy, while the rest has two copies. It can occur in unbalanced translocations or deletions. CASE REPORT In this report, a 6 years old girl was presented who was referred to the Pediatric Dep, Shahid Sadoughi Hospi...

Contrary to the exploits of Captain Nemo and his crew in Jules Verne’s epic novel, there have been few hearty souls willing to venture below the surface of conventional childhood acute immune thrombocytopenic purpura (ITP) management and ask whether symptoms, platelet count, and intervention at diagnosis could predict bleeding severity and incidence in the next month. Accordingly, controversy s...

We report the case of a 33-year-old male presenting with bilateral gynaecomastia whose karyotype was mosaic with 60% of the cells showing an isochromosome for the short arm of the Y chromosome and 40% showing 45,X complement. Further investigation revealed evidence of a stage one seminoma of the right testis and complete azoospermia. He was treated with bilateral orchidectomy and adjuvant radio...