Duplications and copy number variants of 8p23.1 are cytogenetically indistinguishable but distinct at the molecular level

Author:

Barber John C K,Maloney Viv,Hollox Edward J,Stuke-Sontheimer Annegret,du Bois Gabi,Daumiller Eva,Klein-Vogler Ute,Dufke Andreas,Armour John A L,Liehr Thomas

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference26 articles.

1. Barber JCK, Joyce CA, Collinson MN et al: Duplication of 8p23.1: a cytogenetic anomaly with no established clinical significance. J Med Genet 1998; 35: 491–496.

2. O’Malley DP, Storto PD : Confirmation of the chromosome 8p23.1 euchromatic duplication as a variant with no clinical manifestations. Prenat Diagn 1999; 19: 178–185.

3. Begleiter ML, Cooper HA, Paszfor LM, Butler MG : Chromosome 8p23.1 duplication: is there an association with a clinical phenotype? Am J Hum Genet 2000; 65: A158,858.

4. Gibbons B, Tan SY, Barber JCK et al: Duplication of 8p with minimal phenotypic effect transmitted from a mother to her two daughters. J Med Genet 1999; 36: 419–422.

5. Hollox EJ, Armour JAL, Barber JCK : Extensive normal copy number variation of a β-defensin antimicrobial gene cluster. Am J Hum Genet 2003; 73: 591–600.

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