Searchable abstracts of presentations at key conferences in endocrinology

ea0024p24 | (1) | BSPED2010

Short stature with deletion of chromosome 15q and duplication of 16q (q26.3:q23.1)

Ho S , Vasudevan P , Madira W , Greening J

Introduction: The IGF1-receptor (IGF1R) gene is located on the distal long arm of chromosome 15 (bands q26.3). Short stature due to mutation or deletion of IGF1R gene is rare. Mutation of this gene is better known compared to deletion as a cause of growth hormone resistance. We report a girl with pre and postnatal growth failure with chromosome 15q deletion and 16q duplication.Case report: Our patient was born at term weighing 2.7 kg (2nd centile). She w...