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. 2014 Dec 12;7:61. doi: 10.1186/s13039-014-0061-z

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© Venegas-Vega 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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Proband phenotype and cytogenetic analysis. Proband at the age of 6 years and 7 months, showing (a) slender habitus with little subcutaneous fat and scars from the surgery for inguinal hernias; (b) cutis aplasia in midline scalp; (c) sparse hair, long face, high frontal hair line, sparse eyebrows and eyelashes, hypoplastic alae nasi, and low-set ears; and (d) shawl scrotum. (e) Partial GTG-banding karyotype of the patient showing normal and derivative chromosomes 2 and 19. (f) Normal and derivative chromosomes 2 and 19 showing FISH signals. Note the signal of 19q (orange) at the top of der(2), followed by the 2p (green) signal and the 2q (orange) signal at the end of the chromosome. der(19) shows only the 19p (green) signal. (g) Diagram illustrating the insertion of the segment from 19q13.12 to 19q13.43 in 2p25.3, with concomitant deletion of 19q13.11-q13.12.