A Complex Chromosome 7q Rearrangement Identified in a Patient With Mental Retardation, Anxiety Disorder, and Autistic Features

Dauwerse, J.G.; Ruivenkamp, C.A.; Hansson, K.; Marijnissen, G.M.; Peters, D.J.M.; Breuning, M.H.; Hilhorst-Hofstee, Y. (2010)

Article / Letter to editor

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. (C) 2010 Wiley-Liss, Inc.

• mental retardation anxiety disorder autistic features 7q deletion intra-chromosomal insertion interstitial deletion language impairment myoclonus-dystonia gene linkage translocations association phenotype cntnap2 speech

• All authors: Dauwerse, J.G.; Ruivenkamp, C.A.; Hansson, K.; Marijnissen, G.M.; Peters, D.J.M.; Breuning, M.H.; Hilhorst-Hofstee, Y.
• Date: 2010-02-28
• Journal: American Journal of Medical Genetics Part A
• Volume: 152A
• Issue: 2
• Pages: 427 - 433