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  • Title: Ring chromosome 2 in a child with growth failure and few congenital abnormalities.
    Author: Vigfusson NV, Kapstafer KJ, Lloyd MA.
    Journal: Am J Med Genet; 1980; 7(3):383-9. PubMed ID: 7468662.
    Abstract:
    A ring chromosome 2 mosaic [46,XX/46,XX,r(2)(p25q37)] was found in a newborn female with severe intrauterine growth retardation (IUGR), postnatal growth failure, and a few minor abnormalities. Psychomotor development has been normal to 19 months old. A ring chromosome 2 is present in 77.8% of the nuclei examined and is not found in the parents or a sibling. G- and R-banding reveal the break points to be p25q37. The presence of a normal cell line indicates that the chromosome abnormality arose after conception.
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