8q24 缺失症患者的表型为轻度发育异常、智力发育迟缓、酮性低血糖。
Deletion of 8q24 in an adult with mild dysmorphic features, developmental delay, and ketotic hypoglycemia.
机构信息
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
出版信息
Am J Med Genet A. 2010 Jun;152A(6):1545-9. doi: 10.1002/ajmg.a.33395.
Abstract
We present a 56-year-old female with a history of carbohydrate intolerance and ketotic hypoglycemia, dysmorphic features, mild developmental delay, lymphedema, altered pain sensation, and frequent fractures, who was found to have a heterozygous 8.09 Mb deletion of chromosome 8q24.11q24.13 containing more than 39 genes, as well as a duplication of 20q11.23 containing one gene. The deleted region overlaps that of two previously reported patients, who share a subset of clinical characteristics with the patient described here. Some of this patient's clinical features are consistent with the loss of genes in the deleted region. The diagnostic work-up of this patient clearly demonstrates the evolution of genetic testing techniques.
摘要
我们报告了一例 56 岁女性病例，其病史包括碳水化合物不耐受和酮症低血糖、畸形特征、轻度发育迟缓、淋巴水肿、疼痛感觉改变和频繁骨折，该患者被发现存在 8q24.11q24.13 染色体上的 8.09Mb 杂合性缺失，包含超过 39 个基因，以及 20q11.23 上的一个基因重复。缺失区域与之前报道的两名患者重叠，这两名患者与本病例描述的患者有部分临床特征相似。该患者的一些临床特征与缺失区域内基因的缺失相一致。该患者的诊断过程清楚地展示了遗传检测技术的发展演变。
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