Leung A K, Rudd N L
Department of Pediatrics, University of Calgary, Alberta Children's Hospital, Canada.
Am J Med Genet. 1988 Jan;29(1):43-8. doi: 10.1002/ajmg.1320290106.
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.
我们报告一名患有9号环状染色体和9号染色体短臂缺失嵌合体的男婴，其染色体组成为46,XY,r(9) (p22;q34)/46,XY,del(9) (p22)。该患者还患有胃食管反流，伴有持续性反流，导致生长发育迟缓。强调了这种综合征与胃食管反流的关联。
