Characterization of mosaic supernumerary ring chromosomes by array-CGH: segmental aneusomy for proximal 4q in a child with tall stature and obesity.

Abstract

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.

Cite this paper

@article{Bonnet2006CharacterizationOM, title={Characterization of mosaic supernumerary ring chromosomes by array-CGH: segmental aneusomy for proximal 4q in a child with tall stature and obesity.}, author={C{\'e}line Bonnet and Christian Zix and Marie-Jos{\'e} Gr{\'e}goire and Kar{\`e}ne Brochet and Mireille Duc and Florence Rousselet and Christophe Philippe and Philippe Jonveaux}, journal={American journal of medical genetics. Part A}, year={2006}, volume={140 3}, pages={233-7} }