Application Of Dual-color FISH In Diagnosing The Kabuki Syndrome With Chromosome 8;18 Translocation

Objective: To study one Kabuki syndrome patient with chromosome 8;18 translocation using Dual-color BAC-FISH (Bacterial Artificial Chromosome- Fluorescent In Situ Hybridization) , moreover, we hope to find the potential break point in our experiment.Method: The cultivation of peripheral blood lymphocytes cells was performed to prepare the chromosome. Karyotype analysis was carried out by G-banding technique. Fluorescence in situ hybridization (FISH) technique was performed to analyze the case by using NICK translation. According to patient's karyotype, we chose five group of BAC probes, which four are periphery of break point and one is distal end, respectively and directly labeled the chromosome 8 and 18 long arm . Experiment was fulfilled with peripheral blood lymphocyte of normal control and patient.Result: The case had 8; 18 translocation. The red and green signals of the distal end probe of the derivative chromosome were exchanged, remaining probes revealed no difference with normal.Conclusion: Kabuki syndrome is a multiple congenital anomalies /mental retardation syndrome , the multiple organ involvement suggests that this is a contiguous gene syndrome but no chromosomal anomalies have been isolated as an etiology by now. To our knowledge, this is the first case of Kabuki syndrome manifestations with t (8; 18), the exact genetic abnormality underlying Kabuki syndrome currently remains unknown.