Paternal uniparental disomy for chromosome 6 causes transient neonatal diabetes.
作者信息
Whiteford M L, Narendra A, White M P, Cooke A, Wilkinson A G, Robertson K J, Tolmie J L
机构信息
Duncan Guthrie Institute of Medical Genetics, Yorkhill NHS Trust, Glasgow, UK.
出版信息
J Med Genet. 1997 Feb;34(2):167-8. doi: 10.1136/jmg.34.2.167.
Abstract
We report an infant with intrauterine growth retardation and transient neonatal diabetes who has paternal uniparental disomy for chromosome 6. The infant was not dysmorphic and had no congenital anomalies. To our knowledge, this is the third case of paternal uniparental disomy occurring in an infant with transient neonatal diabetes, thus confirming the association.
摘要
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