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  • Title: De novo highly complex chromosome rearrangement (CCR) involving five breakpoints with congenital anomalies analyzed by FISH.
    Author: Curotti G, Benkhalifa M, Raybaud C, Picard F, Bellec V, Qumsiyeh MB.
    Journal: Genet Couns; 1999; 10(3):259-64. PubMed ID: 10546097.
    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.
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