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p57. April 2 nd 2013. & Beckwith-Wiedemann Syndrome. Brandon Ballance. Beckwith-Wiedemann Syndrome. Risk of developing cancer : 7.5%. Genes Associated with BWS. CDKN1C. Genetic Imprinting. 1 in 13,700 Children . Only MATERNAL allele expressed!. CH 3. CH 3.

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& Beckwith-Wiedemann Syndrome

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Beckwith wiedemann syndrome


April 2nd 2013

&Beckwith-Wiedemann Syndrome

Brandon Ballance

Beckwith wiedemann syndrome1

Beckwith-Wiedemann Syndrome

Risk of developing cancer:


Genes associated with bws

Genes Associated with BWS


Genetic imprinting

Genetic Imprinting

1 in 13,700


OnlyMATERNAL alleleexpressed!



Beckwith wiedemann syndrome

Familial Inheritance Pattern

Mutated maternal allele = BWS

Mutated paternal allele = CARRIER


What does the protein d o

What Does the Protein Do?


p57 (KIP2)

G1 Cyclin-CDK Complexes



Beckwith wiedemann syndrome

Model Organism: Knockout Mice

NOtumors developed

Beckwith wiedemann syndrome

Grafted Prostates from Null Mice


Works cited

Works Cited:

"Beckwith-Wiedemann Syndrome." Humpath.com. N.p., 17 Sept. 2003. Web. <http://www.humpath.com/spip.php?article824>.

Hatada, I., Mukai, T. Genomic imprinting of p57(KIP2), a cyclin-dependent kinase inhibitor, in mouse. Nature Genet. 11: 204-206, 1995.

Jin RJ, et al. Down-regulation of p57(Kip2) induces prostate cancer in the mouse. Cancer Res. 2008;68:3601-3608.

Lee, M.-H., Reynisdottir, I., Massague, J. Cloning of p57(KIP2), a cyclin-dependent kinase inhibitor with unique domain structure and tissue distribution. Genes Dev. 9: 639-649, 1995.

Pateras IS, Apostolopoulou K, Niforou K, Kotsinas A, Gorgoulis VG. p57KIP2: “Kip”ing the cell under control. Mol. Cancer Res. 2009;7:1902-1919.

Pilu, Gianluigi. "The Global Library of Women’s Medicine." Ultrasound Atlas. The International Society of Ultrasound in Obstetrics & Gynecology, n.d. Web. <http://www.glowm.com/ultrasoundAtlas>.

Sparago A., Russo S., Cerrato F., Ferraiuolo S., Castorina P., Selicorni A., Schwienbacher C., Negrini M., Ferrero G.B., Silengo M.C., et al. Mechanisms causing imprinting defects in familial Beckwith–Wiedemann syndrome with Wilms’ tumour. Hum. Mol. Genet. 2007;16:254-264.

TunsterSJ, Van De Pette M, John RM. Fetal overgrowth in the Cdkn1c mouse model of Beckwith-Wiedemann syndrome. DMM Disease Models and Mechanisms. 2011;4(6):814–821.

"What Is Beckwith Wiedemann Syndrom?" Assisting Families and Individuals Affected with BWS. Beckwith Wiedemann Children's Assn of NZ (Inc), n.d. Web. <http://www.bwcanz.org/What-is-Beckwith-Wiedemann-Syndrome-.php>.

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