Colley A, Thakker Y, Ward H, Donnai D
Department of Medical Genetics, St Mary's Hospital, Manchester.
J Med Genet. 1992 Jan;29(1):63-5. doi: 10.1136/jmg.29.1.63.
A 2 1/2 year old girl is reported with a de novo 13;18 unbalanced translocation and the facial features of Williams syndrome, subaortic stenosis, failure to thrive, and developmental delay. This case provides two candidate locations for the underlying molecular pathology of this sporadic syndrome. Williams syndrome is associated with intellectual and growth retardation, infantile feeding problems which may be associated with hypercalcaemia, cardiovascular abnormalities, a friendly, loquacious personality, and a typical facies. The cause is not known and only a few chromosome abnormalities have been reported in patients with the Williams syndrome phenotype. Many papers fail to mention chromosome studies. We report a girl with an unbalanced 13;18 translocation and the Williams syndrome phenotype.
据报道，一名2岁半的女孩患有新发的13;18不平衡易位，并伴有威廉姆斯综合征的面部特征、主动脉瓣下狭窄、发育不良和发育迟缓。该病例为这种散发性综合征的潜在分子病理学提供了两个候选位置。威廉姆斯综合征与智力和生长发育迟缓、可能与高钙血症相关的婴儿喂养问题、心血管异常、友好健谈的性格以及典型面容有关。病因尚不清楚，仅有少数具有威廉姆斯综合征表型的患者报告有染色体异常。许多论文未提及染色体研究。我们报告了一名患有13;18不平衡易位和威廉姆斯综合征表型的女孩。
