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Jacobsen Syndrome, also known as 11q deletion disorder, is a rare congenital disorder resulting from deletion of a terminal region of chromosome 11 that includes band 11q24.1. It can cause intellectual disabilities, a distinctive facial appearance, and a variety of physical problems including heart defects and a bleeding disorder. The syndrome was first identified by Danish physician Petra Jacobsen, and is believed to occur in approximately 1 out of every 100,000 births. ==Possible characteristics== *Heart defects *Mild to severe intellectual disabilities *Low-platelets (thrombocytopenia) *Facial/skeletal (dysplasia) *Wide-set eyes caused by trigonocephaly *Folding of the skin near the eye (epicanthus) *Short, upturned nose (anteverted nostrils) *Thin lips that curve inward *Displaced receding chin (retrognathia) *Low-set, misshapen ears *Permanent upward curvature of the pinkie and ring fingers (camptodactyly) *Large great toes/Hammer toes In addition, patients tend to be shorter than average and have poor psychomotor skills. The majority of Jacobsen syndrome cases are not familial in nature, resulting from a spontaneous mutation occurring in a single parental gamete. However, some instances of familial disease resulting from local chromosome fragility or an unbalanced translocation have been described. 抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』 ■ウィキペディアで「Jacobsen syndrome」の詳細全文を読む スポンサード リンク
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