de Vries B B, Eussen B H, van Diggelen O P, van Der Heide A, Deelen W H, Govaerts L C, Lindhout D, Wouters C H, Van Hemel J O
Department of Clinical Genetics, University Hospital Dijkzigt, Erasmus University Rotterdam, The Netherlands.
Am J Med Genet. 1999 Nov 19;87(2):189-94. doi: 10.1002/(sici)1096-8628(19991119)87:2<189::aid-ajmg12>3.3.co;2-h.
In a 3-year-old boy with short stature, developmental delay, and dry skin, steroid sulphatase deficiency and a submicroscopic terminal deletion of Xp were found. Except for the short stature, no major clinical signs of X-linked recessive chondrodysplasia punctata could be observed. His mother had lowered steroid sulphatase activity compatible with carriership for X-linked ichthyosis and a submicroscopic translocation (X;14)(p22.31;p11.1). This finding combined with a normal amplification of exons 1, 5, and 10 of the STS gene from propositus' DNA suggested a breakpoint upstream of the STS gene. The submicroscopic maternal translocation had important implications for genetic counseling. This case report illustrates that contiguous gene syndrome related to the Xpter region may have an atypical clinical presentation and the usefulness of combined clinical, biochemical, molecular, and fluorescence in situ hybridization analysis.
在一名患有身材矮小、发育迟缓及皮肤干燥的3岁男孩中，发现了类固醇硫酸酯酶缺乏以及Xp末端亚显微缺失。除身材矮小外，未观察到X连锁隐性点状软骨发育不良的主要临床体征。其母亲的类固醇硫酸酯酶活性降低，符合X连锁鱼鳞病携带者特征，且存在亚显微易位(X;14)(p22.31;p11.1)。这一发现与先证者DNA中STS基因外显子1、5和10的正常扩增相结合，提示STS基因上游存在一个断点。母亲的亚显微易位对遗传咨询具有重要意义。本病例报告表明，与Xpter区域相关的连续性基因综合征可能具有非典型临床表现，以及联合临床、生化、分子和荧光原位杂交分析的实用性。
