title: 10p duplication characterized by fluorescence in situ hybridization.
abstract: We describe a patient with severe failure to thrive, mild-moderate developmental delay, cleft lip and palate, and other anomalies. Routine cytogenetic analysis documented a de novo chromosome rearrangement involving chromosome 4, but the origin of the derived material was unknown. Using chromosome specific painting probes, the karyotype was defined as 46,XY,der(4) t(4;10)(q35;p11.23). Characterization of the dup(10p) by fluorescence in situ hybridization (FISH) analysis provides another example of the usefulness of this technology in identifying small deletions, duplications, or supernumerary marker chromosomes.
authors.affiliation: Medical Genetics and Birth Defects Center, Henry Ford Hospital, Detroit, Michigan 48202.
authors.forename: A
authors.initials: A
authors.lastname: Wiktor
authors.forename: G L
authors.initials: GL
authors.lastname: Feldman
authors.forename: P
authors.initials: P
authors.lastname: Kratkoczki
authors.forename: D M
authors.initials: DM
authors.lastname: Ditmars
authors.forename: D L
authors.initials: DL
authors.lastname: Van Dyke
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002879:Chromosomes, Human, Pair 10 / Q000648:ultrastructure; D002894:Chromosomes, Human, Pair 4 / Q000648:ultrastructure; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D002658:Developmental Disabilities / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D011379:Prognosis; D014178:Translocation, Genetic