Transient neonatal diabetes mellitus in an infant with paternal uniparental disomy of chromosome 6 including heterodisomy for 6q24.
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.
Milenkovic
Tatjana
T
Department of Endocrinology, Mother and Child Health Care Institute of Serbia, Radoja Dakica 8, 11070 Belgrade, Serbia. tanjamil@eunet.yu
Martic
Jelena
J
Robinson
David O
DO
Mackay
Deborah J G
DJ
Petrovic
Katarina
K
Zdravkovic
Dragan
D
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*
D007004:Hypoglycemic Agents; D007328:Insulin