Paternal duplication of the 11p15 centromeric imprinting control region is associated with increased expression of CDKN1C in a child with Russell-Silver syndrome

Am J Med Genet A. 2015 Dec;167A(12):3229-33. doi: 10.1002/ajmg.a.37371. Epub 2015 Sep 11.

Authors

Yuan Xue^{1

2}, Suma Shankar², Kristen Cornell², Zunyan Dai^{1

2}, Chuan-En Wang², M Katherine Rudd^{1

2}, Bradford Coffee^{1

2}

Affiliations

¹ Emory Genetics Laboratory, Emory University, Atlanta, Georgia.
² Department of Human Genetics, Emory University, Atlanta, Georgia.

PMID: 26358311
DOI: 10.1002/ajmg.a.37371

No abstract available

MeSH terms

Centromere / genetics*
Child
Chromosome Duplication / genetics*
Chromosomes, Human, Pair 11 / genetics*
Comparative Genomic Hybridization
Cyclin-Dependent Kinase Inhibitor p57 / genetics*
Female
Genomic Imprinting*
Humans
Male
Prognosis
Silver-Russell Syndrome / genetics*
Silver-Russell Syndrome / pathology

Substances

CDKN1C protein, human
Cyclin-Dependent Kinase Inhibitor p57