Kleczkowska A, Kubien E, Fryns J P, Van den Berghe H
Center for Human Genetics, University of Leuven, Belgium.
Genet Couns. 1990;1(3-4):235-40.
Within the past 25 years 478 patients with Turner syndrome have been diagnosed in the Leuven Centre for Human Genetics. After exclusion of 36 lost pregnancies, mostly first trimester spontaneous abortions, almost 20 per cent of the remaining 442 Turner syndrome patients have been early detected, i.e. before the age of two years. Moreover, a high prevalence of classic 45,X karyotype over other karyotypes was observed in this age group. The high mortality of prenatally diagnosed Turner syndrome fetuses is discussed here in view of the most common associated congenital malformations.
在过去25年里，鲁汶人类遗传学中心诊断出478例特纳综合征患者。排除36例流产病例（大多为孕早期自然流产）后，在其余442例特纳综合征患者中，近20%在两岁前即被早期诊断出来。此外，该年龄组中经典的45,X核型的患病率高于其他核型。鉴于最常见的相关先天性畸形，本文讨论了产前诊断的特纳综合征胎儿的高死亡率。
