Parental origin effects in human trisomy for chromosome 14q: implications for genomic imprinting.

doi:10.1136/jmg.35.10.821

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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 kn...

Topics

Aneuploidy
Chromosomes, Human, Pair 14
Congenital Abnormalities
Female
Genomic Imprinting
Genotype
Humans
Male
Phenotype
Trisomy

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