Paternal uniparental disomy for chromosome 6 causes transient neonatal diabetes

M L Whiteford; A Narendra; M P White; A Cooke; A G Wilkinson; K J Robertson; J L Tolmie

doi:10.1136/jmg.34.2.167

Paternal uniparental disomy for chromosome 6 causes transient neonatal diabetes

J Med Genet. 1997 Feb;34(2):167-8. doi: 10.1136/jmg.34.2.167.

Authors

M L Whiteford¹, A Narendra, M P White, A Cooke, A G Wilkinson, K J Robertson, J L Tolmie

Affiliation

¹ Duncan Guthrie Institute of Medical Genetics, Yorkhill NHS Trust, Glasgow, UK.

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.

MeSH terms

Chromosome Aberrations*
Chromosomes, Human, Pair 6*
Diabetes Mellitus / congenital
Diabetes Mellitus / embryology
Diabetes Mellitus / genetics*
Fetal Growth Retardation / genetics
Humans
Infant, Newborn
Male
Ploidies