关键词: 染色体平衡易位, Prader-Willi综合征, 甲基化特异性PCR, 甲基化特异性MLPA

Abstract: Objective To expore genetic diagnosis and pathogenesis for one case of Prader-willi syndrome(PWS) patient with chromosomal balance-translocation. Method Chromosome karyotype analysis and methylation-specific polymerase chain reaction (MSPCR) and multiplex ligation-dependent probe amplifi -cation(MS-MLPA) were applied for detecting the genetic disorder and analyzing pathogenesis of patient. Results The result of chromosome karyotype was 45, XY, -5, -15, t (5, 15) (q34q13).The patient was diagnosed with PWS by MS-PCR.Further MS-MLPA comfirmed PWS was due to paternal deletion in 15q11-13 region. Conclusion The cellular and molecular genetics experiments are crucial in the clinical diagnosis and molecular genetic basis of PWS.

Key words: balanced chromosomal translocations, prader-Willi syndrome, methylation-specific PCR, methylation-specific MLPA