Relaxation of imprinting in Prader-Willi syndrome.

doi:10.1007/s004390050893

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Article

Relaxation of imprinting in Prader-Willi syndrome.

Human genetics - 1 Dec 1998

Rogan P K, Seip J R, White L M, Wenger S L, Steele M W, Sperling M A, Menon R, Knoll J H

Abstract excerpt

We describe two Prader-Willi syndrome (PWS) patients who exhibit maternal uniparental disomy (UPD) of chromosome 15 and unusual patterns of gene expression and DNA replication. Both were diagnosed during infancy as having PWS; however, their growth and development were atypical compared with othe...

Topics

Adolescent
Alleles
Child
Chromosome Aberrations
Chromosomes, Human, Pair 15
DNA Methylation
DNA Replication
Fathers
Female
Gene Expression
Genetic Markers
Genomic Imprinting
Humans
Male
Microsatellite Repeats
Mothers
Polymorphism, Genetic
Prader-Willi Syndrome

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