ea0058oc5.8 | Oral Communications 5 | BSPED2018
Cottrell Emily
, Chatterjee Sumana
, Moore Gudrun
, Ishida Miho
, Greening James
, Wright Neil
, Bossowski Artur
, Deeb Asma
, Al Basiri Iman
, Rose Stephen
, Mason Avril
, Ahn JooWook
, Bint Susan
, Savage Martin O
, Metherell Louise A
, Storr Helen L
Introduction: Our Centre receives international referrals for genetic analysis of children with short stature (SS) and features of GH/IGF-1 insensitivity. Copy number variation (CNV) hasnt previously been investigated in GH/IGF-1 insensitivity. We hypothesised CNVs contribute to the phenotype in our undiagnosed cohort.Experimental design/methodology: CGH was performed with oligonucleotide array using ~60,000 probes in 60 patients (38 M, mean age 7....