Document Detail

Characterization of a de novo complex chromosome rearrangement (CCR) involving chromosomes 2 and 12, associated with mental retardation and impaired speech development.
MedLine Citation:
PMID:  16974087     Owner:  NLM     Status:  MEDLINE    
We report on a currently six-year-old patient with a de novo complex chromosome rearrangement (CCR) involving chromosomes 2 and 12. A translocation 2;12 that appeared to be reciprocal after standard banding turned out to be a complex event with seven breaks after molecular cytogenetic analyses. Array CGH analysis showed no imbalances at the breakpoints but revealed an additional microdeletion of about 80 kb on chromosome 11. The same deletion was also present in the phenotypically normal father. The patient showed relatively mild mental retardation, defined mainly as impaired speech development (orofacial dyspraxia) and psychomotor retardation. In addition, mild dysmorphic facial features like hypertelorism, a prominent philtrum and down-turned corners of the mouth were observed. We narrowed down all breakpoint regions to about 100 kb, using a panel of mapped bacterial artificial chromosome (BAC) clones for fluorescence in situ hybridization (FISH). BACs spanning or flanking all seven breakpoints were identified and no chromosomal imbalances were found consistent with the array CGH results. Our investigations resulted in the following karyotype: 46,XY,t(2;12)(2pter-->2p25.3::2p23.3-->2p25.2::2p23.3-->2p14::2q14.3-->2p14::2q14.3-->2q14.3::12q 12-->12qter;12pter-->12q12::2p25.3-->2p25.2::2q14.3-->2qter).
T Schwarzbraun; R Ullmann; M Schubert; M Ledinegg; L Ofner; C Windpassinger; K Wagner; P M Kroisel; E Petek
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Cytogenetic and genome research     Volume:  115     ISSN:  1424-859X     ISO Abbreviation:  Cytogenet. Genome Res.     Publication Date:  2006  
Date Detail:
Created Date:  2006-09-15     Completed Date:  2006-10-20     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  101142708     Medline TA:  Cytogenet Genome Res     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  84-9     Citation Subset:  IM    
Copyright Information:
Copyright (c) 2006 S. Karger AG, Basel.
Institute of Medical Biology and Human Genetics, Medical University Graz, Austria.
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MeSH Terms
Chromosome Aberrations
Chromosome Breakage
Chromosomes, Artificial, Bacterial
Chromosomes, Human, Pair 11
Chromosomes, Human, Pair 12*
Chromosomes, Human, Pair 2*
Cytogenetic Analysis
Face / abnormalities
Family Health
Mental Retardation / genetics*
Speech Disorders / genetics*
Translocation, Genetic*

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