Here we report the first case of an inverted duplicated neocentric small supernumerary marker chromosome present in a karyotype 47,XX,+mar(Y). As expected a partial disomy of Ypter to Yp11.2 did not lead to any major malformations. However, the formation of an inverted duplicated chromosome from a Y chromosome is not possible by a U-type exchange, as has been suggested for such kind of neocentric marker chromosomes. Thus, some evidence is here provided that this concept might not always be true.
(c) 2009 S. Karger AG, Basel.