Ring chromosome 2 in a child with growth failure and few congenital abnormalities.
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.
D000015:Abnormalities, Multiple / Q000235:genetics; D002869:Chromosome Aberrations / Q000235:genetics*; D002871:Chromosome Banding; D025063:Chromosome Disorders; D002875:Chromosomes / Q000648:ultrastructure; D002900:Chromosomes, Human, 1-3; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D007223:Infant; D007621:Karyotyping; D009030:Mosaicism