Leonard N J, Harley F L, Lin C C
Department of Medical Genetics, Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada.
Am J Med Genet. 1999 Sep 10;86(2):115-7.
We report on the clinical findings in an adolescent male with a de novo terminal deletion of chromosome 10 del(10)(q26.1). This young man is one of the oldest known patients reported with this condition. His condition is compared with that of 11 reported cases of de novo terminal deletion of 10q at band 26. Individuals with chromosome 10q26 deletion have some findings and medical complications in common. Our patient has chronic renal failure due to urinary tract obstruction from posterior urethral valves. Similar anomalies have been reported in cases of 10q26 deletion, suggesting a careful renal/urinary tract evaluation should be completed in individuals with this condition.
我们报告了一名患有10号染色体末端新发缺失del(10)(q26.1)的青春期男性的临床发现。这名年轻人是已知患有这种疾病的年龄最大的患者之一。将他的病情与11例报告的10q26.1带末端新发缺失病例进行了比较。10q26缺失的个体有一些共同的发现和医学并发症。我们的患者因后尿道瓣膜导致的尿路梗阻而患有慢性肾衰竭。在10q26缺失病例中也报告了类似的异常情况，这表明对患有这种疾病的个体应进行仔细的肾脏/尿路评估。
