What is monosomy 13 in multiple myeloma?
Chromosome 13 abnormalities are frequently observed in multiple myeloma (MM). Several reports recently demonstrated the strong prognostic value of these abnormalities, associated with a short survival. Cytogenetic studies have shown that most of these abnormalities are complete monosomies.
What happens when chromosome 13 is missing?
Chromosome 13, Partial Monosomy 13q is usually apparent at birth and may be characterized by low birth weight, malformations of the head and facial (craniofacial) area, abnormalities of the eyes, defects of the hands and/or feet, genital malformations in affected males, and/or additional physical abnormalities.
What does monosomy 13 mean?
Disease definition. Monosomy 13q14 is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the long arm of chromosome 13, characterized by developmental delay, variable degrees of intellectual disability, retinoblastoma and craniofacial dysmorphism (incl.
What is chromosome 13 responsible for?
Chromosome 13 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 13 spans about 114 million base pairs (the building material of DNA) and represents between 3.5 and 4% of the total DNA in cells….
| Chromosome 13 | |
|---|---|
| GenBank | CM000675 (FASTA) |
What happens if you have Monosomy?
It causes many traits and problems. Girls with TS are shorter than most girls. They don’t go through normal puberty as they grow into adulthood. They may also have other health problems, such as heart or kidney problems.
What are chromosome 13 characteristics?
Individuals with trisomy 13 often have heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra fingers or toes, an opening in the lip (a cleft lip ) with or without an opening in the roof of the mouth (a cleft palate ), and weak muscle tone (hypotonia).
What disorders are caused by monosomy?
Monosomy, or partial monosomy, is the cause of some human diseases such as Turner syndrome and Cri du Chat syndrome.
What is the prognosis of multiple myeloma with chromosome 13 abnormalities?
Chromosome 13 abnormalities are frequently observed in multiple myeloma (MM). Several reports recently demonstrated the strong prognostic value of these abnormalities, associated with a short survival. Cytogenetic studies have shown that most of these abnormalities are complete monosomies.
What are the genes of interest in multiple myeloma?
In multiple myeloma, the main genes of interest on chromosome 13 have been the cell-cycle regulator RB1 and the exonuclease DIS3. RB1 is infrequently mutated but is more frequently bi-allelically deleted (6%), especially in high-risk groups ( 3 ).
Do patients with monosomy 13 display telomeric or telomere deletion?
These patients probably display monosomy 13. In the other eight patients, only partial deletions were observed. In five cases, only the telomeric probe was retained, whereas in three cases, cells displayed two signals only with the 13q11–12 probe.
What is the role of del(13) in multiple myeloma?
Summary: In this issue of Blood Cancer Discovery, Chesi and colleagues have performed a series of mouse experiments, combined with patient sample analysis, to delineate the role of del (13) in multiple myeloma. They identify loss of the miRNA cluster MIR15A/16-1 as critical for myelomagenesis and progression of disease.