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Cytogenetic and molecular characterization of a partial trisomy 2p arising from inverted duplication of 2p with terminal deletion of 2pter

✍ Scribed by Carlos A. Tirado

Publisher: John Wiley and Sons
Year: 2010
Tongue: English
Weight: 43 KB
Volume: 152A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.33218

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✦ Synopsis

Please note that Figure 2A needed correction.

[A] FISH using subtelomere probes [TelVysion 2p Spectrum green (VIJyRM2052) and TelVysion 2q Spectrum orange (VIJyRM2123)] from Abbott Molecular. The legend is correct; however, the chromosome on the left should have a red signal designated with q and no signal on the p. In the picture published in the article Am J Med Genet Part A 149A: page 2510, the p and the q were inverted by mistake. Please see the corrected image, Figure 2A.

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## Abstract Deletion 3p syndrome is associated with characteristic facial features, growth failure, and mental retardation. Typically, individuals with deletion 3p syndrome have terminal deletions that result in loss of material from 3p25 to 3pter. We present a child with a clinical phenotype consi