Intractable Rare Dis Res. 2013;2(4):123-126. (DOI: 10.5582/irdr.2013.v2.4.123)

Prader-willi syndrome: A case report and a Chinese literature review.

Zhu JZ, Cao QY, Zhang N, Zhao LJ


Prader-Willi syndrome (PWS) is a genetic disorder, resulting from lack of gene expression on the paternally inherited chromosome 15. It is important to determine diagnostic methods for PWS for early treatment. In this study, we report a newborn with Prader-willi syndrome. We further summarized the genetic testing results in the Chinese literature and the relevance of high resolution chromosome and genome-wide copy number variation analysis. There is a heterozygosis deletion of a 5 Mb region in the paternal chromosome 15q11.3-q13.3 by genome-wide copy number variation analysis. However, there is no abnormality in high resolution chromosome karyotype analysis. In conclusion, genome-wide copy number variation analysis is an effective and specific diagnosis method, which will provide scientific evidence for the clinical diagnosis and early treatment of PWS.

KEYWORDS: Prader-Willi syndrome, genome-wide copy number variation analysis, high resolution chromosome gene imprinting

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