These can be diagnosed by cytogenetic study (karyotype analysis) of virtually any tissue type. Numerical chromosomal abnormalities (aneuploidies) -- the presence of an extra chromosome (trisomy ...

Translocations are usually detected when a cytogeneticist examines a karyotype, which is an ordered arrangement of an individual's metaphase chromosomes. In standard karyotypes, chromosomes that ...

When the translocation chromosome with the extra piece of chromosome 21 is inherited together with two normal copies of chromosome 21, DS results. It is possible, however, for individuals to ...

2013;13(6):601-611. In other situations, normal microarray analysis in the presence of an abnormal karyotype, such as marker chromosomes, is reassuring, as it indicates that the marker is lacking ...

Postnatally, diagnosis is performed by karyotyping, a blood test that verifies the extra chromosome 21, or the FISH test, which gives quicker results. Although Down syndrome cannot be cured ...