| Literature DB >> 12431259 |
J R Vermeesch1, E Baten, J-P Fryns, K Devriendt.
Abstract
Ring chromosome 7 is an unusual chromosome anomaly. Here we describe a patient with ring chromosome 7 and we show that both subtelomeres are still present. The diagnosis agrees with 'ring syndrome'. This report helps to further delineate the clinical manifestations of 'ring syndrome' and to distinguish the phenotypic consequences of the presence of a ring chromosome 7 from the phenotypic consequences of terminal chromosome 7 submicroscopic deletions.Entities:
Mesh:
Year: 2002 PMID: 12431259 DOI: 10.1034/j.1399-0004.2002.620511.x
Source DB: PubMed Journal: Clin Genet ISSN: 0009-9163 Impact factor: 4.438