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Cryptic genomic imbalances in patients with de novo or familial apparently balanced translocations and abnormal phenotype.
Sismani C, Kitsiou-Tzeli S, Ioannides M, Christodoulou C, Anastasiadou V, Stylianidou G, Papadopoulou E, Kanavakis E, Kosmaidou-Aravidou Z, Patsalis PC
Mol Cytogenet 2008, 1:15
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A de novo 8.8-Mb deletion of 21q21.1-q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21.
Haldeman-Englert CR, Chapman KA, Kruger H, Geiger EA, McDonald-McGinn DM, Rappaport E, Zackai EH, Spinner NB, Shaikh TH
Am J Med Genet A 2010 Jan, 152A:196-202
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