Deletion of 8q24 in an Adult With Mild Dysmorphic Features, Developmental Delay, and Ketotic Hypoglycemia

作者：Solomon Benjamin D; Lange Eileen; Shubrook Jay; Service F John; Herman Gail; Karne Rajaram J; Gorden Phillip; Muenke Maximilian; Stratakis Constantine A^*

来源：American Journal of Medical Genetics, Part A, 2010, 152A(6): 1545-1549.

DOI：10.1002/ajmg.a.33395

• 8q
• 8q24
• microdeletion

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. Published 2010 Wiley-Liss, Inc.(dagger)

• 出版日期2010-6