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.
Battisti, C., Bonaglia, M.C., Giglio, S., Anichini, C., Pucci, L., Dotti, M., et al. (2003). De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities. AMERICAN JOURNAL OF MEDICAL GENETICS. PART A, 117(3), 207-211 [10.1002/ajmg.a.10149].
De novo double translocation 3;13 and 4;8;18 in a patient with mental retardation and skeletal abnormalities.
BATTISTI, CARLA;DOTTI, MARIA;FEDERICO, ANTONIO
2003
Abstract
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.
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http://hdl.handle.net/11365/24773
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