A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family

Author:

Knijnenburg Jeroen,van Bever Yolande,Hulsman Lorette O M,van Kempen Chantal A P,Bolman Galhana M,van Loon Rosa Laura E,Beverloo H Berna,van Zutven Laura J C M

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference20 articles.

1. Belangero SI, Bellucco FT, Cernach MC, Hacker AM, Emanuel BS, Melaragno MI : Interrupted aortic arch type B in A patient with cat eye syndrome. Arq Bras Cardiol 2009; 92: e29–e31, e56-28.

2. Berends MJ, Tan-Sindhunata G, Leegte B, van Essen AJ : Phenotypic variability of cat-eye syndrome. Genet Couns 2001; 12: 23–34.

3. Rosias PR, Sijstermans JM, Theunissen PM et al: Phenotypic variability of the cat eye syndrome. Case report and review of the literature. Genet Couns 2001; 12: 273–282.

4. Buhler EM, Mehes K, Muller H, Stalder GR : Cat-eye syndrome, a partial trisomy 22. Humangenetik 1972; 15: 150–162.

5. Schinzel A, Schmid W, Fraccaro M et al: The ‘cat eye syndrome’: dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture. Hum Genet 1981; 57: 148–158.

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