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. 2014 Sep 25;7:65. doi: 10.1186/s13039-014-0065-8

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© Salas-Labadía et al.; licensee BioMed Central Ltd. 2014

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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Cytogenomic analysis A) Microarray analysis shows a partial trisomy 14 of the proximal region between 19.5 Mb and 21.3 Mb (arr 14q11.1q11.2(18,127,052-19,927,052) x 2~3). FISH with DNA BACs probes for 14q11.2 spectrum green and 14q32.33 spectrum orange shows: B) Metaphase with whole trisomy 14, each chromosome 14 with one green and one orange signals; C) Metaphase with del(14)(q11.2) lacking 14q32.33 orange signal. GTG-banded partial karyotype showing: D) +del(14)(q11.2) E) trisomy 14 and F) normal diploid chromosomes 14.