AGB 121: Principles of Animal Genetics and Population Genetics (2+1)

KARYOTYPE NOMENCLATURE

Karyotype	Description
46,XY	Normal male
47, XX,+21	Female with trisomy 21, Down Syndrome.
47, XY,+21 / 46, XY	Male mosaic for trisomy 21 and normal cells
46, XY, del(4)(p14)	Male with distal deletion of the short arm of chromosome 4 band designated 14.
46,XX, dup (5p)	Female with a duplication of short arm of chromosome 5.
45, XY, -13, -14, t(13q;14q)	Male with a balanced Robertsonian translocation of chromosome 13 and 14, with a normal 13 and normal 14 missing.
46, XX, t(11;22)(q23;q22)	Male with a balanced reciprocal translocation
46,XX, inv(3)(p21;q13)	Female with an inversion on chromosome 3 from p21 to q13; because it includes the centromere this is a pericentric inversion.
46, X.r(X)	A female with one normal X and one ring X chromosome.
46, X, i(Xq)	Female with one normal X chromosome and and isochromsome of the long arm of the X.