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Chromosome Res. 2009;17(6):737-44. doi: 10.1007/s10577-009-9059-5. Epub 2009 Aug 12.

Implication of long-distance regulation of the HOXA cluster in a patient with postaxial polydactyly.

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1
Department of Clinical Genetics, Erasmus MC, PO Box 2040, 3000 CA Rotterdam, The Netherlands.

Abstract

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.

PMID:
19672683
PMCID:
PMC2759026
DOI:
10.1007/s10577-009-9059-5
[Indexed for MEDLINE]
Free PMC Article
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