Neri G, Sanfilippo S, Pavone L, Mollica F, Barberi I, Giuffrè L, Romano C, Mattina T, Cammarata M, Ragusa M G
Istituto di Genetica Umana, UCSC, Roma, Italy.
Am J Med Genet. 1988 May-Jun;30(1-2):665-72. doi: 10.1002/ajmg.1320300167.
We have studied a group of 349 institutionalized propositi with mental retardation, and found 12 fra(X)-positive cases among 155 males (7.7%) and 8 fra(X)-positive cases among 194 females (4.1%). The males had characteristic manifestations of the Martin-Bell syndrome. Another 7 males, who were initially considered "borderline", having expression of fra(X) less than 4% and a non-characteristic phenotype, were eventually considered negative. Among 5,624 patients (2,764 males and 2,860 females) that were admitted to the Pediatric Department of the University of Catania during the period July 1986 - June 1987, 210 (120 males and 90 females) had mental retardation. Of these, 75 were analyzed for the presence of fra(X) (q27.3); 5 males (0.18% of all males) and 2 females (0.07% of all females) were fra(X)-positive. The males had the Martin Bell syndrome phenotype. The presence of fra(X) (q27) was confirmed in another 4 male propositi that were referred to our outpatient services with a clinical diagnosis of Martin-Bell syndrome.
我们研究了一组349名患有智力障碍的机构收容受试者，发现在155名男性中有12例脆性X染色体阳性病例（7.7%），在194名女性中有8例脆性X染色体阳性病例（4.1%）。男性具有马丁-贝尔综合征的典型表现。另外7名男性最初被认为是“临界”病例，其脆性X染色体表达低于4%且表型不典型，最终被判定为阴性。在1986年7月至1987年6月期间入住卡塔尼亚大学儿科的5624名患者（2764名男性和2860名女性）中，有210名（120名男性和90名女性）患有智力障碍。其中，对75名患者进行了脆性X染色体（q27.3）检测；5名男性（占所有男性的0.18%）和2名女性（占所有女性的0.07%）脆性X染色体阳性。男性具有马丁-贝尔综合征表型。另外4名以马丁-贝尔综合征临床诊断转诊至我们门诊的男性受试者也被证实存在脆性X染色体（q27）。
