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These individuals may have more severe disease than those with isolated monosomy of 5p.
The exact cause of partial monosomy 11q is not fully understood.
In the majority of cases where monosomy occurs, the X chromosome comes from the mother.
Juvenile myelomonocytic leukemia and monosomy 7 will be discussed below.
Almost all cases of partial monosomy 13q occur randomly for no apparent reason (sporadic).
Ras pathway mutations are also associated with monosomy 7.
Fetuses with monosomy 14 are not viable.
Partial monosomy occurs when only a portion of the chromosome has one copy, while the rest has two copies.
If not, three bright oranges (trisomy) might appear, or one green (monosomy), suggesting a particular chromosomal defect.
Acquired monosomy 7.
Juvenile monosomy 7 syndrome: Evidence that the disease originates in a pluripotent hemopoietic stem cell.
Human conditions due to monosomy:
Familial monosomy 7 syndrome.
In this case, the cell can be considered as carrying a monosomy for the chromosome on which the markers are located, or, possibly, as haploid.
Monosomy is a form of aneuploidy with the presence of only one chromosome (instead of the typical two in humans) from a pair.
Clonal abnormality (including monosomy 7)
In the majority of cases, Chromosome 13, Partial Monosomy 13q appears to occur randomly, for no apparent reason (sporadic).
The only known survivable monosomy is Turner syndrome, where the individual is monosomic for the X chromosome.
Although cytogenetic abnormalities, including monosomy 7, occur in 30% to 40% of patients, none is specific for JMML.
In rare instances, monosomy 3 tumors may duplicate the remaining copy of the chromosome to return to a disomic state referred to as isodisomy.
Two women were found to have partial monosomy of the X chromosome that was felt to be related to the presentation of spontaneous premature ovarian failure.
Gene expression profiling outperforms all of the above-mentioned factors at predicting metastatic spread of the primary tumor, including monosomy 3.
Cri du chat syndrome is due to a partial deletion of the short arm of chromosome number 5, also called "5p monosomy".
Main factors associated with poor survival were allocation to the etoposide arm, unfavorable karyotype (i.e., monosomy 7 or complex abnormalities), and anemia.