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Two cases with a C‐group ring autosome

1966; Wiley; Volume: 30; Issue: 1 Linguagem: Inglês

10.1111/j.1469-1809.1966.tb00001.x

1469-1809

L. Atkins, Shyam S. Pant, Gerald W. Hazard, Eileen M. Ouellette,

Genomics and Rare Diseases

Summary Two boys with a C‐group ring autosome, one 81/2 and the other 21/2 years old, are described. The older boy, who had microcephaly, muscular hypotonia and poor co‐ordination as well as mental and physical retardation, had an additional chromosomal anomaly in the form of a presumed translocation involving a B‐group chromosome and a fragment of the C‐group autosome from which the ring was derived. The younger boy showed only retardation of mental and physical development. This investigation was supported by U.S. Public Health Service Research Grant no. NB‐04662 from the National Institute of Neurological Diseases and Blindness. We are indebted to Dr Lyn Konugres of the Blood Grouping Laboratory, Boston, for the erythrocyte antigen, haptoglobin and transferrin studies. The technical assistance of the Misses Ida Leone, Mary Hauck. Susan Fletcher, Charlotte King, and Mrs Bettina Hirsch is acknowledged.