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However, some instances of familial disease resulting from local chromosome fragility or an unbalanced translocation have been described.
ASPS is very rare, because it involves a specific breaking and joining event between two chromosomes, called an "unbalanced translocation".
Individuals with Emanuel syndrome inherit an unbalanced translocation between chromosomes 11 and 22 in the form of a der(22) chromosome.
Jumping translocation (JT) is an unbalanced translocation that comprises amplified chromosomal segments jumping to various telomeres.
In fact, normal pigmentation is observed in a PWS patient with an unbalanced translocation in which all loci except D15S12 are deleted.
In particular, these terms would be used in the situation of an unbalanced translocation, where an individual carries a derivative chromosome formed through the breakage and fusion of two different chromosomes.