title: Unbalanced mosaic karyotypes with different structural abnormalities involving a common chromosome region: report of two cases.
abstract: We report on 2 cases with different de novo unbalanced mosaic karyotypes in which each cell line had a different structural abnormality involving a common chromosome region: 46,XX,del(11)(q23.3)/46,XX.-11, + der(11)t(11;?)(q23.3;?) and 46,X,idic(Xq)/46,X,idic(Xq),-12, + der(12)t(X;12)(p11.2;p13.3). Molecular-cytogenetic analysis confirmed the origin of the derivative 12 chromosome in the latter. We present a literature review of reports with mosaic cell lines of structural chromosome abnormalities that share the same chromosome breakpoint.
authors.affiliation: Department of Pediatrics, Bowman Gray School of Medicine of Wake Forest University, Winston-Salem, North Carolina.
authors.forename: M J
authors.initials: MJ
authors.lastname: Pettenati
authors.forename: L A
authors.initials: LA
authors.lastname: Teot
authors.forename: C
authors.initials: C
authors.lastname: Smith
authors.forename: R
authors.initials: R
authors.lastname: Hayworth
authors.forename: I T
authors.initials: IT
authors.lastname: Thomas
authors.forename: J C
authors.initials: JC
authors.lastname: Veille
authors.forename: P N
authors.initials: PN
authors.lastname: Rao
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002460:Cell Line; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002880:Chromosomes, Human, Pair 11; D002881:Chromosomes, Human, Pair 12; D005260:Female; D005315:Fetal Diseases / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D009030:Mosaicism; D011247:Pregnancy; D014178:Translocation, Genetic; D014960:X Chromosome