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はじめに
1956年Prader, Labhart, Williら1)が,生下時に筋緊張低下をきたして乳児期をすぎるとそれが自然に回復し,それに伴つて肥満,知能低下,侏儒が発現する特異な症候群を報告した。それ以来Prader-Willi症候群,またはHHHO症候群(Hypotonia-Hypomentia-Hypogonadism-Obcsity)などという名のもとに相次いで報告されている。われわれも最近本症の2例を経験しそれらの症例に対して染色体分析,ホルモン測定,知能検査などを施行したのでそれらの結果について報告する。
Two cases of Prader-Willi syndrome were reported. These 2 cases were 4 years old and inspite that hypotonia, which is characteristic for this syndrome, was not remarkable, but other signs such as hypomentia, hypogonadism, obesity and others were positive and the interesting point was that the appearance rate of Y-chromatin being lower than normal, but non-fluorescent Y chromosome was noticed in one case. This suggests some relation to abnormal chromosome as the cause of this syndrome.
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