title: Deletion of 8q24 in an adult with mild dysmorphic features, developmental delay, and ketotic hypoglycemia.
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.
authors.affiliation: Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
authors.forename: Benjamin D
authors.initials: BD
authors.lastname: Solomon
authors.forename: Eileen
authors.initials: E
authors.lastname: Lange
authors.forename: Jay
authors.initials: J
authors.lastname: Shubrook
authors.forename: F John
authors.initials: FJ
authors.lastname: Service
authors.forename: Gail
authors.initials: G
authors.lastname: Herman
authors.forename: Rajaram J
authors.initials: RJ
authors.lastname: Karne
authors.forename: Phillip
authors.initials: P
authors.lastname: Gorden
authors.forename: Maximilian
authors.initials: M
authors.lastname: Muenke
authors.forename: Constantine A
authors.initials: CA
authors.lastname: Stratakis
mesh_terms: D000328:Adult; D002872:Chromosome Deletion; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D006987:Hypesthesia / Q000175:diagnosis / Q000235:genetics*; D007003:Hypoglycemia / Q000175:diagnosis / Q000235:genetics*; D008209:Lymphedema / Q000175:diagnosis / Q000235:genetics*; D008875:Middle Aged; D013577:Syndrome