Contradictions in Karyotypes
Recently, I and my PhD student, Jennifer Warrender have become
interested in the representation of karyotypes. There are descriptions
of chromosome complement of an individual. In essence, they are a
birds-eye view of the genome. Normally, they are described using a
karyotype string, so my karyotype would be 46,XY
(probably!) which is
normal male. When describing abnormalities, these can get very complex;
take, for example,
46,XX,der(9),t(9;11)(p22;q23)t(11;12)(p13;q22)c,der(11)t(9;11)t(11;12)c,der(12)t(11;12)c[20]
which describes a patient with multiple translocations.