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

Am J Med Genet A. 2006 Feb 1;140(3):233-7. doi: 10.1002/ajmg.a.31075.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Abnormalities, Multiple / pathology
  • Child
  • Chromosome Banding
  • Chromosomes, Human, Pair 4 / genetics*
  • Developmental Disabilities / pathology
  • Family Health
  • Female
  • Genome, Human
  • Growth Disorders / pathology
  • Humans
  • In Situ Hybridization, Fluorescence
  • Insulin-Like Growth Factor Binding Proteins / genetics
  • Karyotyping
  • Mosaicism*
  • Nucleic Acid Hybridization / methods*
  • Obesity / pathology
  • Ring Chromosomes*

Substances

  • Insulin-Like Growth Factor Binding Proteins
  • insulin-like growth factor binding protein-related protein 1