A 15q24 microduplication, reciprocal to the recently described 15q24 microdeletion, in a boy sharing clinical features with 15q24 microdeletion syndrome patients |
| |
Authors: | Kiholm Lund Ann-Britt Hove Hanne Dahlgaard Kirchhoff Maria |
| |
Institution: | aDepartment of Clinical Genetics, Blegdamsvej 9, 4062, Rigshospitalet, Copenhagen, Denmark |
| |
Abstract: | A 15q24 microduplication, reciprocal to the minimal critical region for the recently described 15q24 microdeletion syndrome, was found in a 2-year-old boy by 244k Agilent oligoarray CGH analysis. The boy had global developmental delay and dysmorphic facial features, digital and genital abnormalities. The duplication was inherited from a healthy father, but was considered clinically significant, as the patient shared clinical features with 15q24 microdeletion syndrome patients. To our knowledge this is the first report of a patient with a 15q24 microduplication. |
| |
Keywords: | 15q24 Microduplication 244k Agilent oligoarray 15q24 Microdeletion syndrome |
本文献已被 ScienceDirect PubMed 等数据库收录! |
|