Deletion of 8q24 in an adult with mild dysmorphic features, developmental delay, and ketotic hypoglycemia.
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.
Solomon
Benjamin D
BD
Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.
Lange
Eileen
E
Shubrook
Jay
J
Service
F John
FJ
Herman
Gail
G
Karne
Rajaram J
RJ
Gorden
Phillip
P
Muenke
Maximilian
M
Stratakis
Constantine A
CA
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