A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia  Catarina M Seabra, Sofia Quental, Ana Paula.

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A novel Alu-mediated microdeletion at 11p13 removes WT1 in a patient with cryptorchidism and azoospermia  Catarina M Seabra, Sofia Quental, Ana Paula Neto, Filipa Carvalho, João Gonçalves, João Paulo Oliveira, Susana Fernandes, Mário Sousa, Alberto Barros, António Amorim, Alexandra M Lopes  Reproductive BioMedicine Online  Volume 29, Issue 3, Pages 388-391 (September 2014) DOI: 10.1016/j.rbmo.2014.04.017 Copyright © 2014 Reproductive Healthcare Ltd. Terms and Conditions

Figure 1 Breakpoint sequence and putative mutation mechanism of the novel 11p13 microdeletion. Nonallelic homologous recombination between two highly homologous Alu elements on chromosome 11 (89% nucleotide identity; positions 32344139–32344450 and 33385196–33385460) is depicted as the likely mechanism underlying the deletion observed in the proband. An electropherogram of the breakpoint sequence of the allele harbouring the 11p13 deletion is also shown, as well as the genes within the deleted region. The coordinates of proximal and distal breakpoints are also indicated (UCSC Human Mar 2006 Assembly: NCBI36/hg18). Reproductive BioMedicine Online 2014 29, 388-391DOI: (10.1016/j.rbmo.2014.04.017) Copyright © 2014 Reproductive Healthcare Ltd. Terms and Conditions

Reproductive BioMedicine Online 2014 29, 388-391DOI: (10. 1016/j. rbmo Copyright © 2014 Reproductive Healthcare Ltd. Terms and Conditions

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