Trisomy 7p resulting from isochromosome formation and whole-arm translocation.
作者： Iosif W. Lurie , Marcia F. Schwartz , Stuart Schwartz , Maimon M. Cohen
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摘要: A newborn boy with a large anterior fontanel, minor facial anomalies, postaxial polydactyly, patent ductus arteriosus, and developmental delay had trisomy of 7p due to an i(7p) concomitant t(2;7) (q37.3; q11.1). Significant enlargement the fontanel is most characteristic finding in patients duplications involving 7p15-pter. Asynchrony fore- hindbrain hemisphere formation leading brain asymmetry various defects posterior fossa are typical infants 7p11-p12. variety heart has also been found more than 50% duplication segments. Isochromosome accompanied by whole-arm translocation, resulting uniparental isodisomy for involved segment, extremely rare cause partial trisomies. Although it not clear whether isochromosome precedes translocation or follows it, secondary rearrangement may have adaptive significance. © 1995 Wiley-Liss, Inc.
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