Taxon:

Human

Gene:

"UPD"

Chromosome:

01

Location:

Description:

More than 20 cases with UPD of chromosome 1 have been reported: seven maternal and 13 paternal. Of 20 reviewed cases, 13 were identified through homozygosity for an autosomal recessive disorder. There is no evidence to suggest a phenotype attributable to imprinted genes.
See Turner CL et al. (2007) for a discussion and summary of cases.

Category:

Disomy (UPD)

Record:

5

Last Modified 2/2/2017

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