De novo paracentric inversion (X)(q26q28) with features mimicking Prader-Willi syndrome.
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.
Florez
Luisa
L
Department of Pediatrics, Louisiana State University Health Sciences Center, New Orleans 70112-2822, USA.
Anderson
Mary
M
Lacassie
Yves
Y
D002648:Child; D007446:Chromosome Inversion; D020223:Chromosome Painting; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D006801:Humans; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000235:genetics*