PMID- 16974087
OWN - NLM
STAT- MEDLINE
DCOM- 20061020
LR  - 20111117
IS  - 1424-859X (Electronic)
IS  - 1424-8581 (Linking)
VI  - 115
IP  - 1
DP  - 2006
TI  - Characterization of a de novo complex chromosome rearrangement (CCR) involving 
      chromosomes 2 and 12, associated with mental retardation and impaired speech 
      development.
PG  - 84-9
AB  - 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).
CI  - Copyright (c) 2006 S. Karger AG, Basel.
FAU - Schwarzbraun, T
AU  - Schwarzbraun T
AD  - Institute of Medical Biology and Human Genetics, Medical University Graz, 
      Austria.
FAU - Ullmann, R
AU  - Ullmann R
FAU - Schubert, M
AU  - Schubert M
FAU - Ledinegg, M
AU  - Ledinegg M
FAU - Ofner, L
AU  - Ofner L
FAU - Windpassinger, C
AU  - Windpassinger C
FAU - Wagner, K
AU  - Wagner K
FAU - Kroisel, P M
AU  - Kroisel PM
FAU - Petek, E
AU  - Petek E
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Switzerland
TA  - Cytogenet Genome Res
JT  - Cytogenetic and genome research
JID - 101142708
SB  - IM
MH  - Child
MH  - Chromosome Aberrations
MH  - Chromosome Breakage
MH  - Chromosomes, Artificial, Bacterial
MH  - Chromosomes, Human, Pair 11
MH  - *Chromosomes, Human, Pair 12
MH  - *Chromosomes, Human, Pair 2
MH  - Cytogenetic Analysis
MH  - Face/abnormalities
MH  - Family Health
MH  - Humans
MH  - Intellectual Disability/*genetics
MH  - Speech Disorders/*genetics
MH  - *Translocation, Genetic
EDAT- 2006/09/16 09:00
MHDA- 2006/10/21 09:00
CRDT- 2006/09/16 09:00
PHST- 2005/08/17 00:00 [received]
PHST- 2006/03/09 00:00 [accepted]
PHST- 2006/09/16 09:00 [pubmed]
PHST- 2006/10/21 09:00 [medline]
PHST- 2006/09/16 09:00 [entrez]
AID - 94804 [pii]
AID - 10.1159/000094804 [doi]
PST - ppublish
SO  - Cytogenet Genome Res. 2006;115(1):84-9. doi: 10.1159/000094804.