title: A case of partial trisomy 13 presenting with hyperinsulinaemic hypoglycaemia.
abstract: We report on a newborn baby with partial trisomy 13 who presented with multiple dysmorphic features and hyperinsulinaemic hypoglycaemia. Cytogenetic study on peripheral blood lymphocytes showed 47,XY,+mar in all cells analysed; fluorescent in situ hybridisation showed that the marker was solely derived from chromosome 13. The final karyotype was 47,XY,+del(13)(q14q32). Milk formula through a nasogastric drip and intravenous glucose infusion were given to prevent further hypoglycaemia. However, the baby developed occasional episodes of hypoglycaemia during bolus feeding. Hence, diazoxide was given, at a dosage of 10 mg/kg per day from day 24. Thereafter, no hypoglycaemic episodes were detected. Subsequent follow-up revealed satisfactory growth, global developmental delay, and left divergent squint.
authors.affiliation: Department of Paediatrics and Adolescent Medicine, Princess Margaret Hospital, Laichikok, Hong Kong, ROC. ykshiu@graduate.hku.hk
authors.forename: Y K
authors.initials: YK
authors.lastname: Shiu
authors.forename: F M
authors.initials: FM
authors.lastname: Lo
authors.forename: T S
authors.initials: TS
authors.lastname: Lam
authors.forename: C B
authors.initials: CB
authors.lastname: Chow
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002882:Chromosomes, Human, Pair 13; D019465:Craniofacial Abnormalities / Q000235:genetics; D006801:Humans; D006946:Hyperinsulinism / Q000235:genetics*; D007003:Hypoglycemia / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D014314:Trisomy / Q000175:diagnosis*