title: Clinical impact of somatic mosaicism in cases with small supernumerary marker chromosomes.
abstract: Somatic mosaicism is present in slightly more than 50% of small supernumerary marker chromosome (sSMC) carriers. Interestingly, non-acrocentric derived sSMC show mosaicism much more frequently than acrocentric ones. sSMC can be present in different mosaic rates, which may go below 5% of the studied cells. Also cryptic mosaicism can be present and mosaics may be differently expressed in different tissues of the body. Even though in the overwhelming majority of the cases somatic sSMC mosaicism has no direct clinical effect, there are also cases with altered clinical outcomes due to mosaicism. Also clinically important is the fact that a de novo sSMC, even present in mosaic, may be a hint of uniparental disomy (UPD). As it is under discussion to possibly replace standard karyotyping by methods like array-CGH, the impracticality of the latter to detect low-level sSMC mosaics and/or UPD has to be considered as well. Overall, sSMC mosaicism has to be studied carefully in each individual case, as it can be extremely informative and of importance, especially for prenatal genetic counseling.
authors.affiliation: Institute of Human Genetics, Jena University Hospital, DE-07743, Jena, Germany. i8lith@mti.uni-jena.de
authors.forename: T
authors.initials: T
authors.lastname: Liehr
authors.forename: E
authors.initials: E
authors.lastname: Klein
authors.forename: K
authors.initials: K
authors.lastname: Mrasek
authors.forename: N
authors.initials: N
authors.lastname: Kosyakova
authors.forename: R S
authors.initials: RS
authors.lastname: Guilherme
authors.forename: N
authors.initials: N
authors.lastname: Aust
authors.forename: C
authors.initials: C
authors.lastname: Venner
authors.forename: A
authors.initials: A
authors.lastname: Weise
authors.forename: A B
authors.initials: AB
authors.lastname: Hamid
mesh_terms: D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics; D055028:Comparative Genomic Hybridization / Q000379:methods; D005260:Female; D005817:Genetic Counseling; D005819:Genetic Markers; D006801:Humans; D007621:Karyotyping; D009030:Mosaicism; D011247:Pregnancy; D012729:Sex Chromosome Aberrations; D058533:Sex Chromosome Disorders of Sex Development / Q000235:genetics; D014314:Trisomy / Q000235:genetics; D024182:Uniparental Disomy / Q000175:diagnosis / Q000235:genetics
chemical_list: D005819:Genetic Markers