Characterization of mosaic supernumerary ring chromosomes by array-CGH: segmental aneusomy for proximal 4q in a child with tall stature and obesity.
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.
Bonnet
Céline
C
Laboratoire de Génétique EA 3441, Centre Hospitalier Universitaire de Nancy, Vandoeuvre les Nancy, France.
Zix
Christian
C
Grégoire
Marie-José
MJ
Brochet
Karène
K
Duc
Mireille
M
Rousselet
Florence
F
Philippe
Christophe
C
Jonveaux
Philippe
P
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002648:Child; D002871:Chromosome Banding; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D002658:Developmental Disabilities / Q000473:pathology; D005192:Family Health; D005260:Female; D015894:Genome, Human; D006130:Growth Disorders / Q000473:pathology; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D018969:Insulin-Like Growth Factor Binding Proteins / Q000235:genetics; D007621:Karyotyping; D009030:Mosaicism; D009693:Nucleic Acid Hybridization / Q000379:methods*; D009765:Obesity / Q000473:pathology; D012303:Ring Chromosomes
D018969:Insulin-Like Growth Factor Binding Proteins; C102529:insulin-like growth factor binding protein-related protein 1