Apparently balanced chromosomal inversions may lead to disruption of developmentally important genes at the breakpoints of the inversion, causing congenital malformations. Characterization of such inversions may therefore lead to new insights in human development. Here, we report on a de novo inversion of chromosome 7 (p15.2q36.3) in a patient with postaxial polysyndactyly. The breakpoints do not disrupt likely candidate genes for the limb phenotype observed in the patient. However, on the p-arm the breakpoint separates the HOXA cluster from a gene desert containing several conserved noncoding elements, suggesting that a disruption of a cis-regulatory circuit of the HOXA cluster could be the underlying cause of the phenotype in this patient.

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Keywords Chromosome 7, Congenital malformation, HOXA cluster, Pericentric chromosomal inversion, Postaxial polysyndactyly, article, case report, chromosome 7, fluorescence in situ hybridization, gene cluster, human, infant, karyotype, male, pericentric chromosome inversion, phenotype, polydactyly, priority journal
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Lodder, E.M., Eussen, B.H.J., van Hassel, D.A.C.M., Hoogeboom, A.J.M., Poddighe, P., Coert, J.H., … de Graaff, E.. (2009). Implication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactyly. Chromosome Research: the international journal for all aspects of chromosome and nuclear biology, 17(6), 737–744. doi:10.1007/s10577-009-9059-5