| Autor: |
Bonnet, Céline, Zix, Christian, Grégoire, Marie‐José, Brochet, Karène, Duc, Mireille, Rousselet, Florence, Philippe, Christophe, Jonveaux, Philippe |
| Zdroj: |
American Journal of Medical Genetics. Part A; February 2006, Vol. 140 Issue: 3 p233-237, 5p |
| Abstrakt: |
We report on a 6‐year‐old girl with developmental delay, tall stature, and obesity. G‐banded chromosome analysis revealed mosaicism for one to three small de novo rings in 82% of peripheral lymphocytes. Fluorescence in situ hybridization (FISH) studies and metaphase comparative genomic hybridization (CGH) demonstrated that the rings were derived from 4q10‐4q13. A higher resolution investigation was initiated using array‐CGH analysis and revealed a gain of 11 adjacent clones spanning a 16 Mb region at 4q11‐q13.2 and including the insulin‐like growth factor binding protein 7 (IGFBP7) gene. This finding suggests that postnatal overgrowth observed in our patient might be related to a dosage effect of the IGFBP7 gene. © 2006 Wiley‐Liss, Inc. |
| Databáze: |
Supplemental Index |
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