TY - JOUR
T1 - Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: Detailed molecular cytogenetic characterization and review of the literature
AU - Manvelyan, Marina
AU - Riegel, Mariluce
AU - Santos, Monica
AU - Fuster, Carme
AU - Pellestor, Franck
AU - Mazaurik, Marie Luise
AU - Schulze, Bernt
AU - Polityko, Anna
AU - Tittelbach, Hanne
AU - Reising-Ackermann, Gisela
AU - Belitz, Britta
AU - Hehr, Ute
AU - Kelbova, Christina
AU - Volleth, Marianne
AU - Gödde, Elisabeth
AU - Anderson, Jasen
AU - Küpferling, Peter
AU - Köhler, Sigrid
AU - Duba, Hans Christoph
AU - Dufke, Andreas
AU - Aktas, Dilek
AU - Martin, Thomas
AU - Schreyer, Isolde
AU - Ewers, Elisabeth
AU - Reich, Daniela
AU - Mrasek, Kristin
AU - Weise, Anja
AU - Liehr, Thomas
PY - 2008/6/1
Y1 - 2008/6/1
N2 - Thirty-two patients with fertility problems were identified as carriers of small supernumerary marker chromosomes (sSMC). Molecular cytogenetic techniques were used other characterize their chromosomal origin. Together with the other cases available in the literature 111 sSMC cases have now been detected in connection with fertility problems in otherwise clinically healthy persons and characterized for their genetic content. According to this study, in 60% of the cases the sSMC originated from chromosomes 14 or 15. Euchromatic imbalances were caused by the sSMC presence in 30% of the cases. Notably, in 53% of infertile sSMC carriers, the sSMC was parentally transmitted. As we found indications of an as yet unknown mechanism for the elimination of sSMC from the human gene pool, sSMC could also play a role in elucidating the process of chromosome gain and loss during evolution. Nonetheless, further detailed molecular analysis will be necessary in the future to characterize the mechanisms and genetic basis for this phenomenon.
AB - Thirty-two patients with fertility problems were identified as carriers of small supernumerary marker chromosomes (sSMC). Molecular cytogenetic techniques were used other characterize their chromosomal origin. Together with the other cases available in the literature 111 sSMC cases have now been detected in connection with fertility problems in otherwise clinically healthy persons and characterized for their genetic content. According to this study, in 60% of the cases the sSMC originated from chromosomes 14 or 15. Euchromatic imbalances were caused by the sSMC presence in 30% of the cases. Notably, in 53% of infertile sSMC carriers, the sSMC was parentally transmitted. As we found indications of an as yet unknown mechanism for the elimination of sSMC from the human gene pool, sSMC could also play a role in elucidating the process of chromosome gain and loss during evolution. Nonetheless, further detailed molecular analysis will be necessary in the future to characterize the mechanisms and genetic basis for this phenomenon.
KW - De novo
KW - Euchromatic variations
KW - Familial
KW - Fertility problems
KW - Molecular cytogenetics
KW - Small supernumerary marker chromosomes
M3 - Article
VL - 21
SP - 705
EP - 714
JO - International Journal of Molecular Medicine
JF - International Journal of Molecular Medicine
SN - 1107-3756
IS - 6
ER -
