title: Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: detailed molecular cytogenetic characterization and review of the literature.
abstract: Thirty-two patients with fertility problems were identified as carriers of small supernumerary marker chromosomes (sSMC). Molecular cytogenetic techniques were used to 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.
authors.affiliation: Institute of Human Genetics and Anthropology, Kollegiengasse 10, D-07743 Jena, Germany.
authors.forename: Marina
authors.initials: M
authors.lastname: Manvelyan
authors.forename: Mariluce
authors.initials: M
authors.lastname: Riegel
authors.forename: Monica
authors.initials: M
authors.lastname: Santos
authors.forename: Carme
authors.initials: C
authors.lastname: Fuster
authors.forename: Franck
authors.initials: F
authors.lastname: Pellestor
authors.forename: Marie-Luise
authors.initials: ML
authors.lastname: Mazaurik
authors.forename: Bernt
authors.initials: B
authors.lastname: Schulze
authors.forename: Anna
authors.initials: A
authors.lastname: Polityko
authors.forename: Hanne
authors.initials: H
authors.lastname: Tittelbach
authors.forename: Gisela
authors.initials: G
authors.lastname: Reising-Ackermann
authors.forename: Britta
authors.initials: B
authors.lastname: Belitz
authors.forename: Ute
authors.initials: U
authors.lastname: Hehr
authors.forename: Christina
authors.initials: C
authors.lastname: Kelbova
authors.forename: Marianne
authors.initials: M
authors.lastname: Volleth
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Gödde
authors.forename: Jasen
authors.initials: J
authors.lastname: Anderson
authors.forename: Peter
authors.initials: P
authors.lastname: Küpferling
authors.forename: Sigrid
authors.initials: S
authors.lastname: Köhler
authors.forename: Hans-Christoph
authors.initials: HC
authors.lastname: Duba
authors.forename: Andreas
authors.initials: A
authors.lastname: Dufke
authors.forename: Dilek
authors.initials: D
authors.lastname: Aktas
authors.forename: Thomas
authors.initials: T
authors.lastname: Martin
authors.forename: Isolde
authors.initials: I
authors.lastname: Schreyer
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Ewers
authors.forename: Daniela
authors.initials: D
authors.lastname: Reich
authors.forename: Kristin
authors.initials: K
authors.lastname: Mrasek
authors.forename: Anja
authors.initials: A
authors.lastname: Weise
authors.forename: Thomas
authors.initials: T
authors.lastname: Liehr
mesh_terms: D000026:Abortion, Habitual / Q000235:genetics; D000328:Adult; D000568:Amenorrhea / Q000235:genetics; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D020223:Chromosome Painting; D002883:Chromosomes, Human, Pair 14 / Q000235:genetics; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D020732:Cytogenetic Analysis / Q000379:methods*; D022041:Euchromatin / Q000235:genetics; D019143:Evolution, Molecular; D005260:Female; D014644:Genetic Variation; D005838:Genotype; D006801:Humans; D007246:Infertility / Q000235:genetics*; D007247:Infertility, Female / Q000235:genetics; D007248:Infertility, Male / Q000235:genetics; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D012196:Review Literature as Topic
chemical_list: D022041:Euchromatin