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Medical Genetics

Data on Medical Genetics Reported by S. Nikzainal and Co-Researchers

Published in Genomics and Genetics Weekly, May 13th, 2011

2011 MAY 13 -- According to recent research from Erlangen, Germany, "Congenital malformations involving the Mullerian ducts are observed in around 5% of infertile women. Complete aplasia of the uterus, cervix, and upper vagina, also termed Mullerian aplasia or Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, occurs with an incidence of around 1 in 4500 female births, and occurs in both isolated and syndromic forms."

"Previous reports have suggested that a proportion of cases, especially syndromic cases, are caused by variation in copy number at different genomic loci. In order to obtain an overview of the contribution of copy number variation to both...

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