Preferential Paternal Origin of Microdeletions Caused by Prezygotic Chromosome or Chromatid Rearrangements in Sotos Syndrome Noriko Miyake, Naohiro Kurotaki,

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Preferential Paternal Origin of Microdeletions Caused by Prezygotic Chromosome or Chromatid Rearrangements in Sotos Syndrome Noriko Miyake, Naohiro Kurotaki, Hirobumi Sugawara, Osamu Shimokawa, Naoki Harada, Tatsuro Kondoh, Masato Tsukahara, Satoshi Ishikiriyama, Tohru Sonoda, Yoko Miyoshi, Satoru Sakazume, Yoshimitsu Fukushima, Hirofumi Ohashi, Toshiro Nagai, Hiroshi Kawame, Kenji Kurosawa, Mayumi Touyama, Takashi Shiihara, Nobuhiko Okamoto, Junji Nishimoto, Ko-ichiro Yoshiura, Tohru Ohta, Tatsuya Kishino, Norio Niikawa, Naomichi Matsumoto The American Journal of Human Genetics Volume 72, Issue 5, Pages 1331-1337 (May 2003) DOI: 10.1086/375166 Copyright © 2003 The American Society of Human Genetics Terms and Conditions

Figure 1 Panel of 26 sporadic SoS cases of microdeletions that were confirmed by FISH analysis. Upper row shows locations of clones used for FISH (open circle) and polymorphic markers mapped to the deleted regions. Black circle shows a clone that was not deleted in each patient, and gray circle indicates a clone deleted. P = paternal origin of deletion; M = maternal; ND = not determined. The American Journal of Human Genetics 2003 72, 1331-1337DOI: (10.1086/375166) Copyright © 2003 The American Society of Human Genetics Terms and Conditions

Figure 2 Haplotype analysis in eight families having patients with sporadic SoS at 16 polymorphic marker loci: D5S436, D5S410, D5S422, D5S400, D5S429, D5S677, D5S2111, STS02, STS04, STS06, STS03, D5S2008, D5S2073, D5S1354, D5S408, and D5S2006. Position of markers was also shown according to the Marshfield database. Paternal deletions are recognized in all families but a family of SoS85. Gray and open boxes indicate a haplotype on chromosome 5 transmitted from the father and the mother, respectively. At D5S410 in a family of SoS107, which allele (1 or 2) contributes to a haplotype is unknown. The American Journal of Human Genetics 2003 72, 1331-1337DOI: (10.1086/375166) Copyright © 2003 The American Society of Human Genetics Terms and Conditions