TY - JOUR T1 - Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2) A1 - Martin, R. LA - English PB - BMJ Group YR - 1999 UL - http://buscaintegrada.pucsp.br/vufind/Record/pubmed-1762978 AB - Maternal uniparental disomy for the complete long arm of chromosome 14 has been reported in 14 patients to date and is associated with a specific pattern of malformation. We report a child with clinical features of this syndrome who exhibits maternal uniparental disomy confined to a specific interstitial segment of chromosome 14.


Keywords: maternal uniparental disomy; chromosome 14; imprinting KW - Short Report ER -