Stewart J M, Cavanagh N, Hughes D T
Arch Dis Child. 1979 Jun;54(6):477-9. doi: 10.1136/adc.54.6.477.
A patient is reported with seizures, developmental delay, and minor physical anomalies. Karyotype showed a ring formation of chromosome number 20. Previously reported patients with this chromosomal aberration have typically had seizures and behavioural disorders with considerable variation in the degree of physical abnormality and mental retardation. A correct diagnosis in such a case is important for accurate genetic counselling.
据报道,有一名患者出现癫痫发作、发育迟缓及轻微身体异常。核型分析显示20号染色体呈环状结构。先前报道的患有这种染色体畸变的患者通常有癫痫发作和行为障碍,身体异常程度和智力迟钝程度差异很大。对于此类病例做出正确诊断对于准确的遗传咨询很重要。