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Ring chromosome 5 associated with severe growth retardation as the sole major physical abnormality

1994; Wiley; Volume: 49; Issue: 1 Linguagem: Inglês

10.1002/ajmg.1320490121

1096-8628

Maria Valeria Migliori, Valentino Cherubini, E Bartolotta, Antonella Pettinari, R Pécora,

Metabolism and Genetic Disorders

Abstract We report on a case of ring chromosome 5 in a 36‐month‐old girl with severe growth retardation, clinodactyly, mild psychological abnormalities, and normal facial appearance. Endocrine tests showed partial growth hormone deficiency. Cytogenetic investigation failed to demonstrate any apparent microscopic deletion of either short or long arm of chromosome 5 as consequence of ring formation. In 12% of cells examined, the ring was either absent or present in multiple copies. Only 3 previous cases of ring chromosome 5 have been reported in association with short stature of prenatal onset and minor anomalies, without mental retardation. © 1994 Wiley‐Liss, Inc.