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A complex chromosome 7q rearrangement identified in a patient with mental retardation, anxiety disorder, and autistic features
Author(s) -
Dauwerse Johannes G.,
Ruivenkamp Claudia A.,
Hansson Kerstin,
Marijnissen Godfried M.,
Peters Dorien J.M.,
Breuning Martijn H.,
HilhorstHofstee Yvonne
Publication year - 2010
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.33203
Subject(s) - chromosomal inversion , anxiety , biology , genetics , chromosome 7 (human) , autism , chromosomal rearrangement , phenotype , chromosome , snp array , breakpoint , developmental disorder , chromosome band , bacterial artificial chromosome , gene , psychology , gene mapping , karyotype , psychiatry , single nucleotide polymorphism , genotype , genome
We have characterized a de novo complex rearrangement of the long arm of chromosome 7 in a female patient with moderate mental retardation (MR), anxiety disorder, and autistic features. G‐banding suggested a de novo paracentric inversion 46,XX,inv(7)(q31.3q34). However, SNP‐array analysis, showed a ±10 Mb, 7q21.11–q21.3 deletion in the paternal chromosome. Subsequent FISH analysis with BAC/PAC clones in the 7q21–q35 region confirmed this deletion. However, the expected paracentric inversion turned out to be an intra‐chromosomal insertion of the 7q31.31–q35 fragment into band 7q21.3, disrupting the predicted gene C7orf58 in band 7q31.31. Seven other patients have been previously reported with a deletion of 7q21.1–q21.3. Although there is an overlap in phenotype between our patient and these patients, none of them has been described with anxiety disorder and/or autistic features. Therefore we suggest that disruption of the C7orf58 gene might contribute to the anxiety disorder, and autistic features in our patient. © 2010 Wiley‐Liss, Inc.