We present a male infant with r(9) and del(9p) mosaicism and chromosome constitution of 46,XY,r(9) (p22;q34)/46,XY,del(9) (p22). This patient also had gastroesophageal reflux with persistent regurgitation and resultant failure to thrive. The association of this syndrome with gastroesophageal reflux is emphasized.
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Leung et al. (1988) studied this question.
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