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An 11q11–q13.3 duplication, including FGF3 and FGF4 genes, in a patient with syndromic multiple craniosynostoses
Author(s) -
Jehee Fernanda S.,
Bertola Débora R.,
Yelavarthi Krishna K.,
KrepischiSantos Ana C.V.,
Kim Chong,
ViannaMorgante Angela M.,
Vermeesch Joris R.,
PassosBueno Maria Rita
Publication year - 2007
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.31863
Subject(s) - gene duplication , comparative genomic hybridization , biology , genetics , craniosynostoses , breakpoint , gene , craniosynostosis , fluorescence in situ hybridization , computational biology , genome , chromosomal translocation , chromosome
Interstitial duplications of 11q are very rare and seldom reported. In this paper we describe the first case of a duplication involving bands 11q11 and 11q12. This newly described patient has multiple craniosynostoses, congenital heart defect and developmental delay, and is a carrier of a mosaic duplication: 46,XY,dup(11)(q11→q13.3)(29)/46,XY(6). The breakpoints were further delimited by comparative genomic hybridization microarray. We also performed fluorescent in situ hybridization analysis to determine the extension of the duplication in a patient described earlier with a duplication 11q13.5–q21. An overlapping region of less than 1.2 Mb was identified and included the duplication of genes FGF3 and FGF4 in both individuals. We discuss the possible implications of dosage effects of these genes in the onset of craniosynostosis. © 2007 Wiley‐Liss, Inc.