Article
The phenotype of recurrent 10q22q23 deletions and duplications.
European journal of human genetics : EJHG - 1 Apr 2011
van Bon Bregje W M, Balciuniene Jorune, Fruhman Gary, Nagamani Sandesh Chakravarthy Sreenath, Broome Diane L, Cameron Elizabeth, Martinet Danielle, Roulet Eliane, Jacquemont Sebastien, Beckmann Jacques S, Irons Mira, Potocki Lorraine, Lee Brendan, Cheung Sau Wai, Patel Ankita, Bellini Melissa, Selicorni Angelo, Ciccone Roberto, Silengo Margherita, Vetro Annalisa, Knoers Nine V, de Leeuw Nicole, Pfundt Rolph, Wolf Barry, Jira Petr, Aradhya Swaroop, Stankiewicz Pawel, Brunner Han G, Zuffardi Orsetta, Selleck Scott B, Lupski James R, de Vries Bert B A
Abstract excerpt
The genomic architecture of the 10q22q23 region is characterised by two low-copy repeats (LCRs3 and 4), and deletions in this region appear to be rare. We report the clinical and molecular characterisation of eight novel deletions and six duplications within the 10q22.3q23.3 region. Five deletions and three duplications occur between LCRs3 and 4, whereas three deletions and three duplications have unique...
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