title: Distal Partial Trisomy 15q26 and Partial Monosomy 16p13.3 in a 36-Year-Old Male with Clinical Features of Both Chromosomal Abnormalities.
abstract: We report a 36-year-old Caucasian male identified with distal partial trisomy 15q and partial monosomy 16p from an unbalanced chromosome translocation detected by microarray and FISH analysis. He had a history of developmental delay and intellectual disability, chronic anemia, tall and slender stature, thoracic scoliosis and lumbar lordosis, and dysmorphic features. The distal partial trisomy 15q included the insulin-like growth factor 1 receptor gene involved with growth, while genes in the distal partial monosomy 16p region are involved with alpha hemoglobin production, intellectual disability, dysmorphic features, and acromegaly. The chromosome derivative found in our patient contains genes known to play a role in his phenotype.
authors: Department of Psychiatry, University of Kansas Medical Center, Kansas City, Kans., USA.
authors: Devin M
authors: DM
authors: Cox
authors: Merlin G
authors: MG
authors: Butler
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D001321:Autistic Disorder / Q000235:genetics; D057215:Body Dysmorphic Disorders / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics; D002872:Chromosome Deletion; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D014453:Glucuronosyltransferase; D006023:Glycoproteins / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D009006:Monosomy / Q000235:genetics*; D064251:Multifunctional Enzymes; D017350:N-Acetylgalactosaminyltransferases / Q000235:genetics; D017526:Receptor, IGF Type 1; D017451:Receptors, Somatomedin / Q000235:genetics; D017481:Receptors, Somatostatin / Q000235:genetics; D014178:Translocation, Genetic / Q000235:genetics; D014314:Trisomy / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; D006023:Glycoproteins; C000597236:IGF1R protein, human; D064251:Multifunctional Enzymes; D017451:Receptors, Somatomedin; D017481:Receptors, Somatostatin; C075944:insulin-like growth factor binding protein, acid labile subunit; C094573:somatostatin receptor 5; D017350:N-Acetylgalactosaminyltransferases; D014453:Glucuronosyltransferase; C498800:CHSY1 protein, human; D017526:Receptor, IGF Type 1