| Literature DB >> 1552550 |
R S Verma1, R A Conte, J H Pitter, S Luke.
Abstract
A 13 year old girl was referred with congenital microcephaly, developmental delay, a prominent nose, highly arched palate, and an apparently low set left ear. She was found to have a pericentric inversion of one chromosome 7 and a ring chromosome 8, 46,XX,inv(7) (pter----p22::q11.23----p22::q11.23----qter), r(8) (p23q24.3). The concurrence of these two abnormalities is a rare event and has not been reported previously.Entities:
Mesh:
Year: 1992 PMID: 1552550 PMCID: PMC1015827 DOI: 10.1136/jmg.29.1.66
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318