A patient with dir dup 2(q37.1q33.1) is described. Literature review of chromosome 2q duplications suggests a consistent, though nonspecific, facial phenotype. Segregation of those cases that are "pure" duplications from those with accompanying monosomy for another chromosome suggests that a cleft palate may not be attributable to the duplicated segment.
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Bird et al. (2001) studied this question.
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