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De novo paracentric inversion (X)(q26q28) with features mimicking Prader-Willi syndrome
Luisa Florez1, Mary Anderson, Yves Lacassie
1Department of Pediatrics, Louisiana State University Health Sciences Center, New Orleans 70112-2822, USA.
Abstract:
Different genetic and non-genetic disorders, including several chromosomal abnormalities, may mimic Prader-Willi syndrome (PWS). We report on an 11-year-old girl with features reminiscent of PWS due to an unreported de novo paracentric inversion Xq26q28. Microdeletion 15q11-q13 and maternal uniparental disomy 15 were ruled out. The importance of chromosomal studies in addition to molecular analysis on patients with features suggestive of PWS is stressed.
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