Feldman E J
Department of Psychiatry, University of Nottingham, England.
J Intellect Disabil Res. 1996 Oct;40 ( Pt 5):400-11.
X-linked learning disability syndromes occur in approximately one per 600 live male births and account for 20-30% of all learning disability. Fragile-X syndrome comprises some 40% of all X-linked learning disability, and there are currently about 95 recognized syndromes comprising the rest. Clinicians should be alert to these other forms of X-linked learning disability: families should be offered genetic counselling, including dysmorphology opinion and cytogenetic testing. Gene mapping on the X chromosome is advancing very rapidly and some causative genes for X-linked learning disability are now known. Clinicians involved in the care of patients with X-linked learning disability are encouraged to investigate all families, report new syndromes and those with cytogenetic abnormalities, and collaborate with clinical geneticists and laboratory scientists working on X chromosome gene mapping.
X连锁学习障碍综合征在每600例活产男婴中约有1例发生，占所有学习障碍的20% - 30%。脆性X综合征约占所有X连锁学习障碍的40%，目前约有95种已被认可的综合征构成其余部分。临床医生应警惕这些其他形式的X连锁学习障碍：应向家庭提供遗传咨询，包括畸形学评估和细胞遗传学检测。X染色体上的基因定位进展非常迅速，现在已经知道一些X连锁学习障碍的致病基因。鼓励参与X连锁学习障碍患者护理的临床医生对所有家庭进行调查，报告新的综合征以及伴有细胞遗传学异常的综合征，并与从事X染色体基因定位的临床遗传学家和实验室科学家合作。
