engleski

De novo balanced translocation t(18 ; 20)(q21.3 ; q12) in a mentally retarded girl

We report a twenty-year-old girl with mental retardation, obesity, hirsutism and de novo balanced t(18 ; 20)(q21.3 ; q12) translocation. Fluorescence in situ hybridization (FISH) using whole chromosome paint probe 18, the partial chromosome paint 20 (PCP RH17J3), RP11-15C15C (18q21.32-33) and YAC942B1 (20q12) clones were used to precisely define the translocation breakpoints. Based on GTG-banding and FISH analyses, the patient’ s karyotype was interpreted as: 46, XX, t(18 ; 20)(q21.3 ; q12)[20].isht(18 ; 20)(YAC-942B1+ ; RP11-15C15+)[20]de novo. Aarray-comparative genomic hybridisation (a-CGH) examination using 44k and 244A (Agilent) oligonucleotide arrays did not detect a deletion or duplication, neither at the breakpoints or elsewhere in the genome. The abnormal phenotype observed in the patient could be explained by gene disruption, a position effect or could have occurred by coincidence.

De novo balanced translocation; mental retardation

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