Fluorescence in situ hybridization characterization of apparently balanced translocation reveals cryptic complex chromosomal rearrangements with unexpected level of complexity
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://www.nature.com/articles/5201211.pdf
Reference18 articles.
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2. Evans JA, Canning N, Hunter AG et al: A cytogenetic survey of 14,069 newborn infants. III. an analysis of the significance and cytologic behavior of the Robertsonian and reciprocal translocations. Cytogenet Cell Genet 1978; 20: 96–123.
3. Jacobs PA : Correlation between euploid structural chromosome rearrangements and mental subnormality in humans. Nature 1974; 249: 164–165.
4. Bonaglia MC, Giorda R, Borgatti R et al: Disruption of the ProSAP2 gene in a t(12;22)(q24.1;q13.3) is associated with the 22q13.3 deletion syndrome. Am J Hum Genet 2001; 69: 261.
5. Puissant H, Azoulat M, Serre J-L, Piet LL, Junien C : Molecular analysis of a reciprocal translocation t(5;11) (q11;p13) in a WAGR patient. Hum Genet 1988; 79: 280–282.
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