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
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References
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