A de novo, apparently balanced complex chromosome rearrangement (CCR) involving five chromosomes and six chromosome breakpoints was found in a child with Marfanoid habitus, kyphoscoliosis, axillary pterygium, camptodactyly, joint laxity, and mild mental retardation. Fluorescence in situ hybridization (FISH) revealed a simple translocation involving chromosomes 3 and 13, and a complex rearrangement involving chromosomes 4, 8, and 18 with four breakpoints.
|Number of pages||5|
|Journal||American Journal of Medical Genetics|
|Publication status||Published - Mar 15 2003|
- Axillary pterigium
- Chromosome rearrangements
- Mental retardation
ASJC Scopus subject areas