22q部分三体伴芳基硫酸酯酶A活性升高。
Partial trisomy 22q with elevated arylsulfatase-A activity.
作者信息
Fryns J P, Jaeken J, van den Berghe H
出版信息
Ann Genet. 1979;22(3):168-70.
PMID:43111
Abstract
A two years-old, severely mentally retarded male is reported with 22q trisomy. After the recent confirmation of the localisation of arylsulfatase-A (ARSA) on chromosome 22, the elevated activity of this enzyme (about 1,5 times the normal values) in the present patient may be another example of a gene dosage effect in autosomal imbalance.
摘要
据报道，一名两岁的重度智力发育迟缓男性患有22号染色体三体。在最近确定芳基硫酸酯酶A（ARSA）定位于22号染色体后，本患者中该酶活性升高（约为正常值的1.5倍）可能是常染色体失衡中基因剂量效应的另一个例子。
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Hum Genet. 1981;56(3):269-73. doi: 10.1007/BF00274677.
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