Geerts M, Steyaert J, Fryns J P
Center for Human Genetics, University Hospital Leuven, Belgium.
Genet Couns. 2003;14(3):267-79.
In the last decade there has been a significant increase in the proportion of XYY males detected prenatally, mostly as a fortuitous finding. It is of utmost importance to obtain a clear idea of the developmental profile of boys with karyotype 47,XYY and of possible problem areas during further development in order to inform the parents correctly during pregnancy and to provide an adequate surveillance later on. In this study we observed 38 XYY males, of which 12 were diagnosed prenatally. We found that these patients are at considerably increased risk for delayed language--and/or motor development. From birth on, weight, height and head circumference are above average values. The majority attends kindergarten in the normal education circuit although in 50% of the cases psychosocial problems are documented. From primary school age on, there is an increased risk for child psychiatric disorders such as autism. Moreover, although normally intelligent, many of these boys are referred to special education programmes.
在过去十年中，产前检测出的47,XYY男性比例显著增加，大多是偶然发现。为了在孕期向父母提供正确信息并在后续提供充分监测，清楚了解核型为47,XYY的男孩的发育概况以及进一步发育过程中可能出现问题的领域至关重要。在本研究中，我们观察了38名47,XYY男性，其中12名是产前诊断的。我们发现这些患者语言和/或运动发育迟缓的风险显著增加。从出生起，体重、身高和头围就高于平均值。大多数人在正常教育体系中进入幼儿园，不过有50%的病例记录有心理社会问题。从小学年龄起，患儿童精神疾病如自闭症的风险增加。此外，尽管这些男孩通常智力正常，但许多人被转介到特殊教育项目。
