作者
S Kabwama, L Docherty, E Cook, L Harrison, S Ellard, S Ennis, J Shield, D Mackay, I Temple
发表日期
2012/3/1
期刊
Endocrine Abstracts
卷号
28
出版商
Bioscientifica
简介
Results: 164 cases were analysed. The mean age of presentation was 8 days with a mode of 1 day and maximum age of presentation of 90 days. On average, babies recovered by 4.5 months with a mode of 2 months. Birth weight had a normal distribution with a median of 1987g and ranges from 3370 g to 1050 g. Most babies in the study were born at term and only 13 babies were pre-term. 33.5% had paternally inherited duplications at 6q24, 29.3% had a maternal methylation mutation, and 37.2% had paternal UPD6. The data revealed a positive correlation between age of presentation and both birth weight and gestation (P= 0.04 and P= 0.007 respectively). No significant difference between the three genetic abnormalities (duplication, methylation and UPD6) in terms of age of presentation, remission, birth weight and gestation was observed. However, analysis of variance (ANOVA) identified a significant …
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S Kabwama, L Docherty, E Cook, L Harrison, S Ellard… - Endocrine Abstracts, 2012