Interstitial deletion of chromosome 2p16.2p21
| Autor: | M. Hryshko, D. Riordan, M. Tomiuk, A. Vust, A. J. Dawson, S. R. Sanders, Chitra Prasad |
|---|---|
| Rok vydání: | 2003 |
| Předmět: |
Chromosome Aberrations
Genetics business.industry Long smooth philtrum Craniofacial abnormality Breakpoint Infant Chromosome Karyotype General Medicine medicine.disease Phenotype Chromosome Banding Pathology and Forensic Medicine Craniofacial Abnormalities Chromosomes Human Pair 2 Hypotelorism Pediatrics Perinatology and Child Health Humans Medicine Female Anatomy business Prominent nasal bridge Genetics (clinical) |
| Zdroj: | Clinical Dysmorphology. 12:183-185 |
| ISSN: | 0962-8827 |
| DOI: | 10.1097/01.mcd.0000065051.36236.e9 |
| Popis: | We report on a female who presents with an atrial septal defect (ASD), mild hypotelorism, a prominent nasal bridge, a long smooth philtrum, mild developmental delay and a de novo interstitial deletion of the short arm of chromosome 2p, del (2)(p16.2p21). This is the first report of a deletion in chromosome 2 involving those particular breakpoints. We propose that this may represent a new recognizable chromosomal phenotype. |
| Databáze: | OpenAIRE |
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