title: De novo highly complex chromosome rearrangement (CCR) involving five breakpoints with congenital anomalies analyzed by FISH.
abstract: We report on a child with ptosis, epicanthal folds, depressed nasal bridge, carp-shaped mouth, low set ears, hirsutism, pectus excavatum, and developmental and language delay presenting with a balanced complex chromosomal rearrangement (CCR). R- and G-banding methods and fluorescence in situ hybridization were used to document that this is a complex translocation with five breakpoints involving chromosomes 1, 7, 10 and 21.
authors.affiliation: Laboratoire Marcel Mérieux, Lyon, France.
authors.forename: G
authors.initials: G
authors.lastname: Curotti
authors.forename: M
authors.initials: M
authors.lastname: Benkhalifa
authors.forename: C
authors.initials: C
authors.lastname: Raybaud
authors.forename: F
authors.initials: F
authors.lastname: Picard
authors.forename: V
authors.initials: V
authors.lastname: Bellec
authors.forename: M B
authors.initials: MB
authors.lastname: Qumsiyeh
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D018929:Cell Culture Techniques; D002871:Chromosome Banding; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D008214:Lymphocytes; D014178:Translocation, Genetic / Q000235:genetics*