Article
Parental origin effects in human trisomy for chromosome 14q: implications for genomic imprinting.
Journal of medical genetics - 1 Oct 1998
Georgiades P, Chierakul C, Ferguson-Smith A C
Abstract excerpt
Parental origin specific congenital anomalies have been noted in patients with uniparental disomy of the long arm of human chromosome 14 (UPD14). This suggests the presence of imprinted genes, consistent with observations of imprinting in the region of syntenic homology in the mouse. It is not known whether the distinct defects reported for paternal and maternal UPD14 are the result of biallelic expression or...
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