title: Small supernumerary marker chromosomes--progress towards a genotype-phenotype correlation.
abstract: Small supernumerary marker chromosomes (sSMC) are still a major problem in clinical cytogenetics as they are too small to be characterized for their chromosomal origin by traditional banding techniques, but require molecular cytogenetic techniques for their identification. Apart from the correlation of about one third of the sSMC cases with a specific clinical picture, i.e. the i(18p), der(22), i(12p) (Pallister Killian syndrome) and inv dup(22) (cat-eye) syndromes, most of the remaining sSMC have not yet been correlated with clinical syndromes. Recently, we reviewed the available >1600 sSMC cases (Liehr T, sSMC homepage: http://mti-n.mti.uni-jena.de/~huwww/MOL_ZYTO/sSMC.htm). A total of 387 cases (including the 45 new cases reported here) have been molecularly cytogenetically characterized with regard to their chromosomal origin, the presence of euchromatin, heterochromatin and satellite material. Based on analysis of these cases we present the first draft of a basic genotype-phenotype correlation for sSMC for all human chromosomes apart from the chromosomes Y, 10, 11 and 13.
authors.affiliation: Institut für Humangenetik und Anthropologie, Jena, Germany. i8lith@mti.uni-jena.de
authors.forename: T
authors.initials: T
authors.lastname: Liehr
authors.forename: K
authors.initials: K
authors.lastname: Mrasek
authors.forename: A
authors.initials: A
authors.lastname: Weise
authors.forename: A
authors.initials: A
authors.lastname: Dufke
authors.forename: L
authors.initials: L
authors.lastname: Rodríguez
authors.forename: N
authors.initials: N
authors.lastname: Martínez Guardia
authors.forename: A
authors.initials: A
authors.lastname: Sanchís
authors.forename: J R
authors.initials: JR
authors.lastname: Vermeesch
authors.forename: C
authors.initials: C
authors.lastname: Ramel
authors.forename: A
authors.initials: A
authors.lastname: Polityko
authors.forename: O A
authors.initials: OA
authors.lastname: Haas
authors.forename: J
authors.initials: J
authors.lastname: Anderson
authors.forename: U
authors.initials: U
authors.lastname: Claussen
authors.forename: F
authors.initials: F
authors.lastname: von Eggeling
authors.forename: H
authors.initials: H
authors.lastname: Starke
mesh_terms: D000293:Adolescent; D000328:Adult; D002874:Chromosome Mapping; D005260:Female; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007248:Infertility, Male / Q000235:genetics; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D010641:Phenotype
chemical_list: D005819:Genetic Markers