Hyperdiploidy (chromosomal number 51-65) is a common cytogenetic abnormality in pediatric patients with B-lymphoblastic leukemia (B-ALL) and belongs to the favorable cytogenetic subgroup. Hyperdiploidy in adult B-ALL is much less common and its clinical significance has not been well studied.
What is Hyperdiploidy in myeloma?
Abstract. Chromosomal hyperdiploidy is the defining genetic signature in 40–50% of myeloma (MM) patients. We characterize hyperdiploid-MM (H-MM) in terms of its clinical and prognostic features in a cohort of 220 H-MM patients entered into clinical trials.
What does Hyperdiploid mean?
: having slightly more than the diploid number of chromosomes .
What causes Hyperdiploidy?
One of the root questions in this subtype of ALL is how this hyperdiploidy arise? (i) Is it by mitotic events when a haploid cell is produced and subsequent mitosis and loss of chromosome leads to hyperdiploidy[3,15] or a single mitotic event producing hyperdiploid (tetraploid) karyotype then loss of chromosomes in ...
What is high Hyperdiploid?
High hyperdiploidy (51–65 chromosomes, HeH) is an established genetic subtype of B-cell precursor acute lymphoblastic leukaemia (BCP-ALL) , which is associated with a favourable prognosis, especially in children.
What is meant by Diploidy?
Diploid describes a cell that contain two copies of each chromosome . ... Germ line cells are haploid, which means they contain a single set of chromosomes. In diploid cells, one set of chromosomes is inherited from the individual’s mother, while the second is inherited from the father.
What is an example of aneuploidy in a human?
Trisomy is the most common aneuploidy. In trisomy, there is an extra chromosome. A common trisomy is Down syndrome (trisomy 21). Other trisomies include Patau syndrome (trisomy 13) and Edwards syndrome (trisomy 18).
What does Tetrasomic mean?
[ tĕt′rə-sō′mĭk ] adj. Relating to a cell nucleus in which one chromosome occurs four times , while all others are present in the normal number.
How does Chromothripsis happen?
It occurs through one massive genomic rearrangement during a single catastrophic event in the cell’s history . It is believed that for the cell to be able to withstand such a destructive event, the occurrence of such an event must be the upper limit of what a cell can tolerate and survive.
What is ETV6 RUNX1?
ETV6/RUNX1 (E/R) is the most common fusion gene in childhood acute lymphoblastic leukemia (ALL) . Multiple lines of evidence imply a “two-hit” model for the molecular pathogenesis of E/R-positive ALL, whereby E/R rearrangement is followed by a series of secondary mutations that trigger overt leukemia.
What is Hyperdiploidy in leukemia?
Abstract. High hyperdiploidy (51-67 chromosomes) is the most common cytogenetic abnormality pattern in childhood B-cell precursor acute lymphoblastic leukemia (ALL), occurring in 25-30% of such cases.
What does a normal karyotype look like?
A normal human karyotype consists of 22 pairs of autosomes and two sex chromosomes . Note the similar size and striped (banding) pattern between each of the pairs. The autosomal chromosome pairs are numbered and arranged from largest to smallest.
What is a Hyperdiploid karyotype?
These results suggest that the hyperdiploid karyotype usually arises by simultaneous gain of chromosomes from a diploid karyotype during a single abnormal cell division , and occasionally by doubling of chromosomes from a near-haploid karyotype.
How many chromosomes does the normal human have?
In humans, each cell normally contains 23 pairs of chromosomes, for a total of 46 . Twenty-two of these pairs, called autosomes, look the same in both males and females. The 23rd pair, the sex chromosomes, differ between males and females.
What is Monosomy?
What are monosomies? The term “monosomy” is used to describe the absence of one member of a pair of chromosomes . Therefore, there are 45 chromosomes in each cell of the body instead of the usual 46.
What are cytogenetic studies?
The study of chromosomes , which are long strands of DNA and protein that contain most of the genetic information in a cell. Cytogenetics involves testing samples of tissue, blood, or bone marrow in a laboratory to look for changes in chromosomes, including broken, missing, rearranged, or extra chromosomes.
