Yatziv S, Erickson R P, Epstein C J
Clin Genet. 1977 May;11(5):319-26. doi: 10.1111/j.1399-0004.1977.tb01323.x.
X-linked Hunter syndrome (MPS II) is presently thought to exist in two clinically and genetically distinct forms, mild and severe, which are biochemically indistinguishable. However, two sibships have been studied in which both mildy and severely affected children are present. Therefore, genetic counseling for families with MPS II should be reconsidered to take into account the possibility of heterogeneity within a family in terms of the degree of psychomotor retardation and potential longevity.
X连锁型亨特综合征(黏多糖贮积症II型)目前被认为存在两种临床和遗传上不同的形式,即轻度和重度,这两种形式在生化方面无法区分。然而,已经对两个家系进行了研究,其中既有轻度受影响的儿童,也有重度受影响的儿童。因此,对于患有黏多糖贮积症II型的家庭,应该重新考虑遗传咨询,以考虑到家庭内部在精神运动发育迟缓程度和潜在寿命方面存在异质性的可能性。