Borghgraef M, Fryns J P, van den Berghe H
Centre for Human Genetics, University of Leuven, Belgium.
Clin Genet. 1990 May;37(5):341-6. doi: 10.1111/j.1399-0004.1990.tb03516.x.
In this report we present precise data on the clinical, intellectual and behavioural findings in 7 young fra(X) positive girls. The two most common and most important findings are an overgrowth syndrome present from birth on and common behavioural features like severe attentional problems and extreme shyness and anxiety. These symptoms seem to constitute the major criteria for fra(X) screening in prepubertal girls. The findings in previous studies are compared with the present observations.
在本报告中，我们展示了7名脆性X染色体（fra(X)）阳性年轻女孩的临床、智力和行为方面的确切数据。两个最常见且最重要的发现是从出生就存在的生长过度综合征以及诸如严重注意力问题、极度害羞和焦虑等常见行为特征。这些症状似乎构成了青春期前女孩脆性X染色体筛查的主要标准。将先前研究的结果与当前观察结果进行了比较。
