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Characterization of mosaic supernumerary ring chromosomes by array‐CGH: Segmental aneusomy for proximal 4q in a child with tall stature and obesity
Author(s) -
Bonnet Céline,
Zix Christian,
Grégoire MarieJosé,
Brochet Karène,
Duc Mireille,
Rousselet Florence,
Philippe Christophe,
Jonveaux Philippe
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31075
Subject(s) - short stature , supernumerary , comparative genomic hybridization , ring chromosome , fluorescence in situ hybridization , biology , chromosome , metaphase , genetics , fish <actinopterygii> , gene , karyotype , endocrinology , anatomy , fishery
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.
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