| Literature DB >> 7468662 |
N V Vigfusson, K J Kapstafer, M A Lloyd.
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.Entities:
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Year: 1980 PMID: 7468662 DOI: 10.1002/ajmg.1320070321
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299