Presumptive long arm deletion of chromosome 8: a new syndrome?
- 1 January 1979
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 51 (1) , 49-53
- https://doi.org/10.1007/bf00278291
Abstract
This communication describes an infant with growth and psychomotor retardation and severe congenital malformations, who was found to have an interstitial deletion of the long arm of chromosome 8: 46,XY,del(8) (q13q22). Comparison with the only other previously reported patient with a deletion of a similar chromosomal segment suggested that deletion of the long arm of chromosome 8 may constitute a clinically recognizable syndrome.This publication has 2 references indexed in Scilit:
- Small structural changes of chromosome 8Human Genetics, 1977
- Deletion of the long arm of chromosome 8 resulting from a de novo translocation t(4;8) (q13;q213)Human Genetics, 1977