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A limited number of twin pairs with RTT have also been reported in literature.<\/jats:p><\/jats:sec><jats:sec><jats:title>Case Presentation<\/jats:title><jats:p>We investigated 13 year old, monozygotic twin females with RTT and some noticeable differences in development using a combinatorial approach of sequencing and Taqman assay. Monozygosity status of the twins was confirmed by informative microsatellite markers.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The twins shared a<jats:italic>de novo<\/jats:italic>deletion in exon 3 in the MBD domain of<jats:italic>MECP2<\/jats:italic>. To the best of our knowledge, this is only the second report of genetic analysis of a monozygotic twin pair.<\/jats:p><\/jats:sec>","DOI":"10.1186\/1471-2350-12-113","type":"journal-article","created":{"date-parts":[[2011,8,27]],"date-time":"2011-08-27T18:15:01Z","timestamp":1314468901000},"update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["De novo deletion in MECP2 in a monozygotic twin pair: a case report"],"prefix":"10.1186","volume":"12","author":[{"given":"Kirti","family":"Mittal","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Madhulika","family":"Kabra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ramesh","family":"Juyal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thelma","family":"BK","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2011,8,27]]},"reference":[{"issue":"4","key":"846_CR1","doi-asserted-by":"publisher","first-page":"485","DOI":"10.1385\/NMM:8:4:485","volume":"8","author":"S Akbarian","year":"2006","unstructured":"Akbarian S, Jiang Y, Laforet G: The molecular pathology of Rett syndrome: synopsis and update. 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