Article
Duplication of the ZIC2 gene is not associated with holoprosencephaly.
American journal of medical genetics. Part A - 1 Jan 2012
Jobanputra Vaidehi, Burke Alanna, Kwame Anyane-Yeboa, Shanmugham Anita, Shirazi Maryam, Brown Stephen, Warburton Peter E, Levy Brynn, Warburton Dorothy
Abstract excerpt
Cytogenetic testing using genomic microarrays presents a clinical challenge when data regarding the phenotypic consequences of the genomic alteration are not available. We describe a chromosome 13q32.3 duplication discovered by microarray testing in a fetus with a prenatally detected apparently balanced de novo translocation 46,XY,t(2;13)(q37;q32). Microarray analysis on the fetal DNA showed duplications of 384...
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