the myelodysplastic syndrome (mds) is a highly heterogenous disorder and karyotype analysis is helpful for diagnostic and prognostic estimation. deletion in long arm chromosome 6 (6q del) as a sole abnormality is a rare event in mds. this is the first case report of del (6q) as the only observed diagnostic change in iran. we also reviewed the literature of this cytogenetic lesion.

Y chromosomes are challenged by a lack of recombination and are transmitted to the next generation only via males. Sequencing of the mouse Y reveals how these properties drive opposing evolutionary processes: massive decay of ancestral genes and convergent acquisition and amplification of spermatid-expressed gene families on the X and Y chromosome. The convergent acquisition and amplification o...

Background: Division of Human Genetics (DHG) is a referral center for karyotyping and counseling to the couples as well as to the individuals referred with bad obstetric history and infertility. Materials and Methods: From 1972 to 2003, overall 1666 couples and 131 female partners with bad obstetric history (BOH) such as; spontaneous abortions, live births with congenital malformations and stil...

Background: Constitutional chromosome abnormalities are among the major contributors to the genetic causes of reproductive disorders. Despite all of worldwide efforts have been made so far, the prognosis for mosaic X chromosome aberration below 30% of unemployed has yet to be established. The purpose of this study was to assess the quantity and quiddity of chromosomal aberrations that may negat...

Turner’s syndrome is the most common sex chromosomal abnormality in females, affecting an estimated 3 percent of all females conceived. However, the frequency among live born female infants is only 1 in 1500 to 1 in 2500, and as many as 15% of spontaneous miscarriages have a 45,X karyotype. It is estimated that only 1 in 100 embryos with 45, X karyotype survive to term. More than half of all pa...

Partial deletion of the long arm of chromosome 7 is a common abnormality in the bone marrow cells of patients with myelodysplastic syndrome (MDS) or acute nonlymphocytic leukemia (ANLL). This study was undertaken to characterize the chromosome breakpoints in molecular terms and to determine if hemizygosity or submicroscopic deletions occur in patients without any cytogenetically detectable abno...

down syndrome (ds) is a birth defect with huge medical and social costs, caused by trisomy of whole or part of chromosome 21. it is the most prevalent genetic disease worldwide and the common genetic cause of intellectual disabilities appearing in about 1 in 400-1500 newborns. although the syndrome had been described thousands of years before, it was named after john langdon down who described ...

Chromosomes of six patients with plasma cell leukemia and one patient with leukemic macroglobulinemia were examined from peripheral blood, bone marrow, and/or pleural fluid. All the patients had a clonal chromosomal abnormality. The modal chromosome number was near tetraploid in two, pseudodiploid in two, and hypodiploid in three patients. Rearrangements of chromosome 1 were found in all the pa...