title: Transient neonatal diabetes mellitus in an infant with paternal uniparental disomy of chromosome 6 including heterodisomy for 6q24.
abstract: We describe a female infant who developed transient neonatal diabetes mellitus (TNDM) (MIM 601410). At birth she presented with growth retardation and macroglossia. Diabetes was diagnosed on the fourth day of life and it resolved after two months of insulin therapy. Genetic testing revealed the presence of paternal uniparental disomy of chromosome 6 (UPD6) including heterodisomy of 6q24. This is the first documented case of uniparental heterodisomy for chromosome 6.
authors.affiliation: Department of Endocrinology, Mother and Child Health Care Institute of Serbia, Radoja Dakica 8, 11070 Belgrade, Serbia. tanjamil@eunet.yu
authors.forename: Tatjana
authors.initials: T
authors.lastname: Milenkovic
authors.forename: Jelena
authors.initials: J
authors.lastname: Martic
authors.forename: David O
authors.initials: DO
authors.lastname: Robinson
authors.forename: Deborah J G
authors.initials: DJ
authors.lastname: Mackay
authors.forename: Katarina
authors.initials: K
authors.lastname: Petrovic
authors.forename: Dragan
authors.initials: D
authors.lastname: Zdravkovic
mesh_terms: D002896:Chromosomes, Human, Pair 6; D048909:Diabetes Complications / Q000150:complications; D003920:Diabetes Mellitus / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D005260:Female; D005317:Fetal Growth Retardation / Q000209:etiology; D006801:Humans; D006943:Hyperglycemia / Q000209:etiology; D007004:Hypoglycemic Agents / Q000627:therapeutic use; D007231:Infant, Newborn; D007328:Insulin / Q000627:therapeutic use; D008260:Macroglossia / Q000209:etiology; D011110:Polymorphism, Genetic; D016896:Treatment Outcome; D024182:Uniparental Disomy / Q000175:diagnosis / Q000235:genetics*
chemical_list: D007004:Hypoglycemic Agents; D007328:Insulin