Paternal uniparental disomy for chromosome 6 causes transient neonatal diabetes.
AUTOR(ES)
Whiteford, M L
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1050875Documentos Relacionados
- Maternal uniparental disomy for chromosome 14.
- Clinical features in four patients with Angelman syndrome resulting from paternal uniparental disomy.
- "Compensatory" uniparental disomy of chromosome 21 in two cases.
- Maternal uniparental disomy of chromosome 13 in a phenotypically normal child.
- Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease.
