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.
| Original language | English |
|---|---|
| Pages (from-to) | 49-53 |
| Number of pages | 5 |
| Journal | Human genetics |
| Volume | 51 |
| Issue number | 1 |
| DOIs | |
| State | Published - Sep 1979 |