Paternal uniparental disomy of chromosome 6 and transient neonatal diabetes mellitus
- 1 December 1998
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 54 (6) , 522-525
- https://doi.org/10.1111/j.1399-0004.1998.tb03774.x
Abstract
Transient neonatal diabetes mellitus occurs in growth-retarded infants, has an incidence of 1 in 400000 live births and has been associated with both paternal uniparental disomy of chromosome 6 and paternal duplications of 6q. We analysed samples from our cohort of patients with transient neonatal diabetes mellitus for uniparental disomy of chromosome 6 using polymorphic microsatellite repeat analysis. We report here the fifth case of paternal uniparental disomy of chromosome 6 associated with classic transient neonatal diabetes mellitus and estimate that uniparental disomy of chromosome 6 accounts for approximately one fifth of cases of transient neonatal diabetes mellitus.Keywords
This publication has 13 references indexed in Scilit:
- Paternal uniparental disomy for chromosome 6 causes transient neonatal diabetes.Journal of Medical Genetics, 1997
- Aetiopathology and genetic basis of neonatal diabetesArchives of Disease in Childhood: Fetal & Neonatal, 1997
- Fortuitous detection of uniparental isodisomy of chromosome 6.Journal of Medical Genetics, 1997
- A comprehensive genetic map of the human genome based on 5,264 microsatellitesNature, 1996
- An imprinted gene(s) for diabetes?Nature Genetics, 1995
- Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus.Journal of Clinical Investigation, 1994
- Isolation and chromosomal assignment of 100 highly informative human simple sequence repeat polymorphismsGenomics, 1992
- Uniparental isodisomy 6 associated with deficiency of the fourth component of complement.Journal of Clinical Investigation, 1990
- A simple salting out procedure for extracting DNA from human nucleated cellsNucleic Acids Research, 1988
- A new type of transient diabetes mellitus of infancy?Archives of Disease in Childhood, 1986