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XX male with sex reversal and a de novo 11;22 translocation.
Macville MV, Loneus WH, Marcus-Soekarman D, Huys EH, Schoenmakers EF, Schrank-Hacker A, Emanuel BS, Engelen JJ. Macville MV, et al. Among authors: engelen jj. Am J Med Genet A. 2006 Sep 15;140(18):1973-7. doi: 10.1002/ajmg.a.31397. Am J Med Genet A. 2006. PMID: 16894539 Free PMC article. No abstract available.
Partial monosomy 8p/trisomy 8q in a newborn infant due to a maternal three-way translocation: Clinical and cytogenetic comparison with San Luis Valley syndrome.
Stevens SJ, Smeets EE, van den Broek N, Droog RP, Breukels MA, Albrechts JC, Rauh-van Delst M, Traa E, Lennarts M, Janssen JW, Engelen JJ. Stevens SJ, et al. Among authors: engelen jj. Am J Med Genet A. 2010 Aug;152A(8):2123-6. doi: 10.1002/ajmg.a.33522. Am J Med Genet A. 2010. PMID: 20635365 No abstract available.
Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy-Walker malformation.
van Steensel MA, Vreeburg M, Engelen J, Ghesquiere S, Stegmann AP, Herbergs J, van Lent J, Smeets B, Vles JH. van Steensel MA, et al. Am J Med Genet A. 2008 Nov 15;146A(22):2944-9. doi: 10.1002/ajmg.a.32473. Am J Med Genet A. 2008. PMID: 18925676
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