GNAS and MEG3 all of unknown significance; 8: includes mosaic UPD11pat and two with mosaic hypomethylation of ICR1, both missed detection by routine diagnostic analysis. Table II: Clinical Features of BWS and SRS patients with isolated and HIL defects: BWS SRS Clinical Feature Isolated HIL Isolated HIL P-value3 P-value (N=8)2 (N=23) (N=6) 1 Assisted reproduction 2 0 0.49 3 0 1.0 Monozygous Twins 1 3 0.26 0 1 0.21 LGA (>98th centile)4 7 3 0.37 - - SGA (<2nd centile)4 - - 20 5 1.0 Short Stature (<10th - - 14 4 1.0 centile) Macroglossia 8 8 0.23 - - - Umbilical Hernia 2 3 0.60 - - - Asymmetry 4 7 0.06 10 4 0.39 Feeding Difficulties 1 3 0.25 17 4 1.0 Developmental Delay 3 8 0.004** 6 4 0.14 Abnormal Glycaemic 2 6 0.02* 2 0 1.0 control Additional congenital 4 6 0.17 17 5 1.0 abnormalities (cases affected)5 Total 1 Isolated: methylation abnormality at ICR2 (BWS) 11/13 isolated cases, 2 had insufficient clinical data for inclusion here or ICR1 (SRS). 2 HIL: hypomethylation of multiple imprinted loci 3 P values calculated using -squared (Fisher test) and t-test. 4 twins excluded. Centile calculations after www.healthforallchildren.co.uk/pro.epl
GNAS and MEG3 all of unknown significance; 8: includes mosaic UPD11pat and two with mosaic hypomethylation of ICR1, both missed detection by routine diagnostic analysis. Table II: Clinical Features of BWS and SRS patients with isolated and HIL defects: BWS SRS Clinical Feature Isolated HIL (N=8)2 P-value3 Isolated (N=23) 1 HIL (N=6) P-value Assisted reproduction 2 0 0.49 3 0 1.0 Monozygous Twins 1 3 0.26 0 1 0.21 LGA (>98th centile)4 7 3 0.37 - - SGA (<2nd centile)4 - - 20 5 1.0 Short Stature (<10th centile) - - 14 4 1.0 Macroglossia 8 8 0.23 - - - Umbilical Hernia 2 3 0.60 - - - Asymmetry 4 7 0.06 10 4 0.39 Feeding Difficulties 1 3 0.25 17 4 1.0 Developmental Delay 3 8 0.004** 6 4 0.14 Abnormal Glycaemic control 2 6 0.02* 2 0 1.0 Additional congenital abnormalities (cases affected)5 Total 4 6 0.17 17 5 1.0 1 Isolated: methylation abnormality at ICR2 (BWS) 11/13 isolated cases, 2 had insufficient clinical data for inclusion here or ICR1 (SRS). 2 HIL: hypomethylation of multiple imprinted loci 3 P values calculated using -squared (Fisher test) and t-test. 4 twins excluded. Centile calculations after www.healthforallchildren.co.uk/pro.epl
Poole13%2520targeted%2520testing.docx