A neocentric isochromosome Yp present as additional small supernumerary marker chromosome--evidence against U-type exchange mechanism?

Abstract

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.

• Authors: F Sheth, E Ewers, N Kosyakova, A Weise, J Sheth, S Patil, M Ziegler, T Liehr
• Journal: Cytogenetic and genome research (Cytogenet Genome Res) Vol. 125 Issue 2 Pg. 115-6 ( 2009) ISSN: 1424-859X [Electronic] Switzerland
• PMID: 19729914 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: (c) 2009 S. Karger AG, Basel.

Chemical References

• Genetic Markers

Topics

• Chromosome Aberrations
• Chromosomes, Human, Y
• Female
• Genetic Markers
• Humans
• In Situ Hybridization, Fluorescence
• Isochromosomes
• Karyotyping
• Male