Laszlo A, Osztovics M, Dallmann L, Mattyus A
Ann Genet. 1981;24(1):17-20.
The existence of a clinically typical Lesch-Nyhan syndrome was observed in a male infant with 18q deletion syndrome. Indirect hypoxanthine-guanine-phosphoribosyl transferase activity determination demonstrated a normal value, and thus the possibility of Lesch-Nyhan syndrome linked to the X-chromosome may be excluded. It is assumed that the uric acid metabolism must be under the primary or secondary effect of one or other of the gene loci on the long arm of chromosome 18, since the existence off a hyperuricaemic syndrome was observed in this 18q deletion patient.
在一名患有18q缺失综合征的男婴中观察到临床典型的莱施-奈恩综合征的存在。间接次黄嘌呤-鸟嘌呤-磷酸核糖转移酶活性测定显示值正常，因此可以排除与X染色体相关的莱施-奈恩综合征的可能性。据推测，尿酸代谢必定受到18号染色体长臂上一个或其他基因位点的原发性或继发性影响，因为在这名18q缺失患者中观察到了高尿酸血症综合征的存在。
