Silver-Russell syndrome without body asymmetry in three patients with duplications of maternally derived chromosome 11p15 involving CDKN1C

We report duplications of maternally derived chromosome 11p15 involving CDKN1C encoding a negative regulator for cell proliferation in three Japanese patients (cases 1 and 2 from family A and case 3 from family B) with Silver-Russell syndrome (SRS) phenotype lacking hemihypotrophy. Chromosome analys...

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Veröffentlicht in:	Journal of human genetics 2015-02, Vol.60 (2), p.91-95
Hauptverfasser:	Nakashima, Shinichi, Kato, Fumiko, Kosho, Tomoki, Nagasaki, Keisuke, Kikuchi, Toru, Kagami, Masayo, Fukami, Maki, Ogata, Tsutomu
Format:	Artikel
Sprache:	eng
Schlagworte:	Cell proliferation Chromosome 11 Chromosome Duplication Chromosomes Chromosomes, Human, Pair 11 - genetics Chromosomes, Human, Pair 16 - genetics Chromosomes, Human, Pair 17 - genetics Comparative Genomic Hybridization Cyclin-Dependent Kinase Inhibitor p57 - genetics DNA Methylation Family Health Female Gene Duplication Humans Hybridization Karyotype Male Mutation Oligonucleotides Pedigree Phenotypes Sequence analysis Sequence Analysis, DNA Silver-Russell Syndrome - genetics Silver-Russell Syndrome - pathology Translocation, Genetic
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