Tranebjaerg L, Kure P
Department of Medical Genetics, John F. Kennedy Institute, Glostrup, Denmark.
Am J Med Genet. 1991 Feb-Mar;38(2-3):212-4. doi: 10.1002/ajmg.1320380208.
In a Danish county (the island of Funen) cytogenetic screening for fragile X [fra(X)] of 32 autistic individuals aged 0-23 years showed a prevalence of 2/20 among boys and 0/12 among girls. In both cases additional fra(X) positive relatives were found. In 3 patients other chromosome aberrations were demonstrated and in one female Rett syndrome was diagnosed, initially suspected from observations of her behavior on videotapes. The presence of an underlying cause of autism in 6/32, of the patient group encourages an active search for a specific diagnosis among autistic males and females. Future screening of autistic individuals should include 1) fra(X) search also in females, 2) search for other chromosomal disorders, and 3) observation of behavior, in order to diagnose, i.e., Rett syndrome.
在丹麦的一个郡（菲英岛），对32名年龄在0至23岁的自闭症患者进行了脆性X染色体[fra(X)]的细胞遗传学筛查，结果显示男孩中的患病率为2/20，女孩中为0/12。在这两例中均发现了其他fra(X)阳性亲属。3例患者还发现了其他染色体异常，1名女性被诊断为雷特综合征，最初是通过观察她在录像带上的行为而怀疑的。该患者组中6/32存在自闭症的潜在病因，这促使人们积极在自闭症男性和女性中寻找特定诊断。未来对自闭症患者的筛查应包括：1）对女性也进行fra(X)检测；2）寻找其他染色体疾病；3）观察行为，以便诊断出如雷特综合征等疾病。
