Kohonen-Corish M, Strathdee G, Overhauser J, McDonald T, Jammu V
Division of Molecular Medicine, Australian National University, Canberra.
J Med Genet. 1996 Mar;33(3):240-3. doi: 10.1136/jmg.33.3.240.
We report on a patient with a deletion of 18q23. At both 2 and 4 years of age, she displayed few of the facial features or other clinical features associated with the 18q- syndrome. Fluorescent in situ hybridisation and microsatellite marker and RFLP analysis were performed to characterise the extent of the deletion, and a terminal deletion of 18q23 was confirmed. The deleted region includes the gene for myelin basic protein, suggesting that hemizygosity of this gene does not invariably lead to mental and developmental delay. The clinical presentation of this patient suggests that either she is not deleted for the genes involved in the 18q- clinical phenotype or this patient represents one end of the spectrum of the clinical variability seen with 18q terminal deletions.
我们报告了一名18q23缺失的患者。在2岁和4岁时，她几乎没有表现出与18q-综合征相关的面部特征或其他临床特征。进行了荧光原位杂交、微卫星标记和RFLP分析以确定缺失的范围，证实为18q23末端缺失。缺失区域包括髓鞘碱性蛋白基因，这表明该基因的半合子状态并不总是导致智力和发育迟缓。该患者的临床表现表明，要么她未缺失与18q-临床表型相关的基因，要么该患者代表了18q末端缺失所见临床变异性谱的一端。
