| Autor: |
Arrington, Cammon B., Cowley, Brett C., Nightingale, Daniel R., Zhou, Holly, Brothman, Arthur R., Viskochil, David H. |
| Zdroj: |
American Journal of Medical Genetics. Part A; March 2005, Vol. 133 Issue: 3 p326-330, 5p |
| Abstrakt: |
Specific genetic loci responsible for CHARGE association are currently unknown. Herein, we describe a neonate with clinical manifestations consistent with CHARGE association who has a de novo interstitial deletion involving bands 8q11.2 to 8q13. Genetic mapping and genomic microarray technology have been used to more accurately define the breakpoints of this deletion. Within the deleted region, there are approximately 150 expressed genes, one or more of which may contribute to the manifestations of CHARGE association. © 2005 Wiley‐Liss, Inc. |
| Databáze: |
Supplemental Index |
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