Robertsonian translocation 15;21 and ring chromosome 21 syndrome are very rare chromosomal aberrations that result in a greatly increased risk of developing ALL, where the ALL variant is a specific subtype that exhibits intrachromosomal amplification of a copy of chromosome 21 and is thus referred to as iAMP21-ALL. Any association with other forms of ALL or other tumor diseases is currently not known.<\/p>\n<\/div>
Synonym:<\/p>\n<\/div><\/div><\/div>
–<\/p>\n<\/div><\/div><\/div><\/div>
Gene:<\/p>\n<\/div><\/div><\/div>
Robertsonian translocation 15;21<\/p>\n
Ring chromosome 21 syndrome<\/p>\n<\/div><\/div><\/div><\/div>
Gene \u00adproduct:<\/p>\n<\/div><\/div><\/div>
not applicable<\/p>\n<\/div><\/div><\/div><\/div>
Function:<\/p>\n<\/div><\/div><\/div>
not applicable<\/p>\n<\/div><\/div><\/div><\/div>
Pattern of inheritance:<\/p>\n<\/div><\/div><\/div>
not applicable<\/p>\n<\/div><\/div><\/div><\/div>
Prevalence:<\/p>\n<\/div><\/div><\/div>
The incidence of Robertsonian translocation 15;21 ranges between 1:100.000-1:200.000 and 1:20.000 infants.
\nThe incidence of ring chromosome 21 syndrome is not known.<\/p>\n<\/div><\/div><\/div><\/div>
Genotype-phenotype correlation:<\/p>\n<\/div><\/div><\/div>
The only association of Robertsonian translocation 15;21 known so far is with iAMP21-ALL.<\/p>\n<\/div><\/div><\/div><\/div>
Penetrance:<\/p>\n<\/div><\/div><\/div>
Unknown
\nThe risk of developing iAMP21-ALL is around 2700 times higher compared to the general population.<\/p>\n<\/div><\/div><\/div><\/div><\/div><\/div>