Partial trisomy 8q and partial monosomy 18p: a case report |
| |
Authors: | Puvabanditsin S Garrow E Rabi F A Titapiwatanakun R Kuniyoshi K M |
| |
Affiliation: | Department of Pediatrics, University of Medicine and Dentistry of New Jersey, Newark, NJ, USA. surasak1@aol.com |
| |
Abstract: | We report clinical observations and cytogenetic studies of an inherited partial trisomy 8q and partial monosomy 18p. A full trisomy 8 syndrome (Warkany syndrome) is a clinically recognized syndrome. Partial trisomy 8q has been reported sporadically in the literature with variable phenotypes. Partial monosomy 18p, deletion of the short arm of chromosome 18, is also a well-recognized syndrome. This is the first report to the best of our knowledge of partial trisomy for distal 8q and partial monosomy for distal 18p occurring together in a patient. |
| |
Keywords: | Partial trisomy 8q Partial monosomy 18p Chromosome anomaly Newborn |
本文献已被 ScienceDirect PubMed 等数据库收录! |