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

作者：Dauwerse Johannes G^*; Ruivenkamp Claudia A; Hansson Kerstin; Marijnissen Godfried M; Peters Dorien J M; Breuning Martijn H; Hilhorst Hofstee Yvonne

来源：American Journal of Medical Genetics, Part A, 2010, 152A(2): 427-433.

DOI：10.1002/ajmg.a.33203

• mental retardation
• anxiety disorder
• autistic features
• 7q
• deletion
• intra-chromosomal insertion

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.

• 出版日期2010-2