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  • Title: Cytogenetic characterization of an extra structurally abnormal chromosome associated with severe mental retardation: inv dup (15) (q13).
    Author: Gorla N, Slavutsky I, Lisanti J, Pedrazzini E, Vanella L, Larripa I.
    Journal: Hereditas; 1998; 129(1):1-5. PubMed ID: 9868924.
    Abstract:
    We have studied an extra structually abnormal chromosome (ESAC) in a 13 years old boy with profound mental, psychomotor and speech retardation, behavioral problems, seizures and abnormal electroencephalogram. The examination of the bisatellited ESAC with chromosome banding demonstrated that the karyotype was: 47, XY, +inv dup (15) (pter-->q13::q13-->pter). The cytogenetic characterization of the inv dup (15) is reported with special emphasis on the usefulness of DA/DAPI staining when G-banding is sequentially performed to discard possible heteromorphisms in DA/DAPI positive chromosomes, and the importance of Ag-NOR heteromorphisms to ascertain the maternal origin of the inv dup (15). A U-type exchange between two non-sister chromatids is proposed as its mechanism of formation. The clinical features of the case were consistent with those previously reported in similar cases.
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