Chromosome analysis is an essential part of the diagnostic testing of myeloid malignancies. Good chromosome preparations are essential for a complete cytogenetic analysis. This means plentiful metaphase spreads with well-spread crisply banded chromosomes. To achieve such a result, several variables, including the growth rate of the leukemic cells, are critical. The method described in this chap...

Today, multiple myeloma (MM) can be defined as a heterogenous disease composed of different clinical conditions. The differences are a result of patient related factors (age, sex, comorbidity), disease related complications (renal failure, bone disease, neuropathy, throm‐ bosis) and biological characteristics (cytogenetics, lactate dehydrogenase level, plasma cell labelling index, beta2-microgl...

T-cell prolymphocytic leukemia (T-PLL) is a rare form of leukemia composed of mature T-cells that usually presents in older people with a median age of 65. Most cases of T-PLL will harbor chromosomal abnormalities involving 14q11.2 (TCR alpha/delta), 14q32 (TCL1) or Xq28 (MTCP-1), abnormalities of chromosome 8, 12p and deletions of the long arm of chromosomes 5, 6, 11 and 13. Cytogenetics, FISH...

The field of cytogenetics has focused on studying the number, structure, function and origin of chromosomal abnormalities and the evolution of chromosomes. The development of fluorescent molecules that either directly or via an intermediate molecule bind to DNA has led to the development of fluorescent in situ hybridization (FISH), a technology linking cytogenetics to molecular genetics. This t...

In this lecture two-part lecture we will focus on the importance of cytogenetics and molecular biology in understanding the causation of solid tumors and on how this information is being developed for the clinical laboratory. We will review the recurrent rearrangements in some of the pediatric neoplasms and relate the observed changes to the molecular biology that underlies these cancers. The r...

Genomic instability is a hallmark of cancer, and it is well-known that in several cancers the karyotype is unstable and rapidly evolving. Molecular cytogenetics has contributed to the description and interpretation of cancer karyotypes, in particular through multicolor FISH approaches which can define even complex chromosome rearrangements. The introduction of genome-wide methods has made avail...

Quantum dots (QDs) are a novel class of inorganic fluorochromes composed of nanometer-scale crystals made of a semiconductor material. They are resistant to photo-bleaching, have narrow excitation and emission wavelengths that can be controlled by particle size and thus have the potential for multiplexing experiments. Given the remarkable optical properties that quantum dots possess, they have ...

The concurrence of congenital trisomy 8 mosaicism and gestational trophoblastic disease in a forty-two-year-old Gravida IV, Para IV female has been described. In contrast to other cases in the literature, this patient had no additional confounding chromosomal abnormalities other than trisomy 8. To the best of our knowledge, this was the only reported case of constitutional trisomy 8 mosaicism a...

The major aneuploidies diagnosed prenatally involve the autosomes 13, 18, 21, and sex chromosomes X and Y. Fluorescence in situ hybridization (FISH) allows rapid analysis of chromosome copy number in interphase cells. We retrospectively reviewed 130 amniotic fluid interphase FISH analyses from January 1997 to December 2001. The review was done in order to assess the role of interphase FISH amon...