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Novel chromosome abnormality linked to Prader-Willi-like syndrome.

Genomics & Genetics Weekly

| September 26, 2003 | COPYRIGHT 2003 NewsRX. This material is published under license from the publisher through the Gale Group, Farmington Hills, Michigan.  All inquiries regarding rights should be directed to the Gale Group. (Hide copyright information)Copyright

2003 SEP 26 - (NewsRx.com & NewsRx.net) -- A novel chromosomal abnormality is linked to a disorder resembling Prader-Willi syndrome (PWS).

"Different genetic and non-genetic disorders, including several chromosomal abnormalities, may mimic" PWS, scientists in the United States explained.

L. Florez and colleagues at Louisiana State University described the case of "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," they reported.

"The importance of chromosomal studies in addition to molecular analysis on patients with features suggestive of PWS is stressed," the researchers concluded.

Florez and coauthors published their ...

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