期刊
EUROPEAN JOURNAL OF HUMAN GENETICS
卷 15, 期 5, 页码 570-577出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/sj.ejhg.5201795
关键词
developmental delay; disease-associated balanced chromosome rearrangement; hexadactyly; HOXB; position effect; skeletal malformations
A boy with severe mental retardation, funnel chest, bell-shaped thorax, and hexadactyly of both feet was found to have a balanced de novo t(12;17)(p13.3;q21.3) translocation. FISH with BAC clones and long-range PCR products assessed in the human genome sequence localized the breakpoint on chromosome 17q21.3 to a 21-kb segment that lies < 30 kb upstream of the HOXB gene cluster and immediately adjacent to the 30 end of the TTLL6 gene. The breakpoint on chromosome 12 occurred within telomeric hexamer repeats and, therefore, is not likely to affect gene function directly. We propose that juxtaposition of the HOXB cluster to a repetitive DNA domain and/or separation from required cis-regulatory elements gave rise to a position effect.
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