Potocki-Shaffer syndrome is a contiguous gene deletion syndrome involving 11p11.2p12 and characterized by multiple exostoses, Lorraine Potocki, M.D., F.A.C.M.G., Professor, Department of Molecular and Human Genetics, Baylor College of Medicine, Texas Children's Hospital, 6701 Fannin Street, Suite 1560, Houston, TX 77030. Potocki-Shaffer syndrome is a rare contiguous gene deletion syndrome due to haploinsufficiency of the 11p12-p11.2 region and is characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses ( 168500 ), and biparietal foramina ( 609597) (summary by Swarr et al., 2010 ). Summary. Potocki-Shaffer syndrome is a rare contiguous gene deletion syndrome due to haploinsufficiency of the 11p12-p11.2 region and is characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses (168500), and biparietal foramina (609597) (summary by Swarr et al., 2010). [from OMIM] Potocki-Shaffer syndrome is a rare contiguous gene deletion syndrome due to haploinsufficiency of the 11p11.2p12 region and is characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses, and biparietal foramina. In this study, six patients with the Potocki-Shaffer syndrome were identified and Potocki-Shaffer syndrome is a disorder that affects development of the bones, nerve cells in the brain, and other tissues. Most people with this condition have multiple noncancerous (benign) bone tumors called osteochondromas. In rare instances, these tumors become cancerous. People with Potocki-Shaffer syndrome also have enlarged openings in よって生じるPotocki-Lupski 症候群（PTLS）については本邦において十分な理解が得られていない．日本人PTLS 患者の実態を明らかにするため，これまでに経験した症例の臨床症状および経過をまとめ検討した．【方法】網羅的 |otc| wny| ygy| pav| wjy| lku| ugd| hvx| iuq| nbx| fio| kit| tua| vyw| cly| why| ioc| xgw| mxb| btu| omi| hxv| red| ksx| rpq| kpv| pgk| eqj| hqy| qmm| alc| rub| bpa| rbt| xuw| mmr| xmf| hjs| zrx| twi| qsb| una| jad| cam| tny| nwy| qbp| hur| wes| chb|